{"id":"https://openalex.org/W2104048906","doi":"https://doi.org/10.1136/jnnp.67.1.86","title":"Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)","display_name":"Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)","publication_year":1999,"publication_date":"1999-07-01","ids":{"openalex":"https://openalex.org/W2104048906","doi":"https://doi.org/10.1136/jnnp.67.1.86","mag":"2104048906","pmid":"https://pubmed.ncbi.nlm.nih.gov/10369828","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1736420"},"language":"en","primary_location":{"id":"doi:10.1136/jnnp.67.1.86","doi":"https://doi.org/10.1136/jnnp.67.1.86","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jnnp.67.1.86","pdf_url":"https://jnnp.bmj.com/content/jnnp/67/1/86.full.pdf","source":{"id":"https://openalex.org/S134773490","display_name":"Journal of Neurology Neurosurgery & Psychiatry","issn_l":"0022-3050","issn":["0022-3050","1468-330X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neurology, Neurosurgery &amp; Psychiatry","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jnnp.bmj.com/content/jnnp/67/1/86.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5063239378","display_name":"Kinya Ishikawa","orcid":"https://orcid.org/0000-0003-3999-2855","observed_orcids":["https://orcid.org/0000-0003-3999-2855"]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K Ishikawa","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan","Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan","institution_ids":["https://openalex.org/I146399215"]},{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100635576","display_name":"Masahiko Watanabe","orcid":"https://orcid.org/0000-0001-5037-7138","observed_orcids":["https://orcid.org/0000-0001-5037-7138"]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M Watanabe","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084955744","display_name":"Kazuo Yoshizawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K Yoshizawa","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110476664","display_name":"Tsuneo Fujita","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T Fujita","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":null,"display_name":"H Iwamoto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H Iwamoto","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018952929","display_name":"Toshihiro Yoshizawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T Yoshizawa","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":null,"display_name":"K Harada","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K Harada","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047388069","display_name":"Kiyotaka Nakamagoe","orcid":"https://orcid.org/0000-0003-4025-5780","observed_orcids":["https://orcid.org/0000-0003-4025-5780"]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"K Nakamagoe","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Y Komatsuzaki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y Komatsuzaki","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":null,"display_name":"A Satoh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"A Satoh","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086866950","display_name":"Mikio Doi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M Doi","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112080877","display_name":"Takesaburo Ogata","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T Ogata","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112640182","display_name":"Ichiro Kanazawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"I Kanazawa","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110104808","display_name":"S Shoji","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"S Shoji","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112040398","display_name":"Hidehiro Mizusawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I125602781","display_name":"Tokyo Medical and Dental University","ror":"https://ror.org/051k3eh31","country_code":"JP","type":"education","lineage":["https://openalex.org/I125602781","https://openalex.org/I4400009020"]},{"id":"https://openalex.org/I146399215","display_name":"University of Tsukuba","ror":"https://ror.org/02956yf07","country_code":"JP","type":"education","lineage":["https://openalex.org/I146399215"]},{"id":"https://openalex.org/I4210096268","display_name":"National Hospital Organization Mito Medical Center","ror":"https://ror.org/00m9ydx43","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210096268","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210139512","display_name":"Ibaraki Prefectural Central Hospital","ror":"https://ror.org/03q7y2p06","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139512"]},{"id":"https://openalex.org/I4210139719","display_name":"Tsukuba Medical Center Hospital","ror":"https://ror.org/03tjj1227","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139719"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"H Mizusawa","raw_affiliation_strings":["Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","Department of Neurology, Tokyo Medical and Dental University, 1-Chome 5\u201345, Yushima, Bunkyo-ku 113, Tokyo, Japan. Telephone 0081 3 5803 5233"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Institutes of Clinical Medicine, \n\nbDepartment of Pathology, Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan, \n\ncDepartment of Neurology, Mito National Hospital, Mito, Japan, \n\ndDepartment of Internal Medicine, Hatsuishi Hospital, Kashiwa, Japan, \n\neDepartment of Internal Medicine, Ibaraki Prefectural Central Hospital, Tomobe, Japan, \n\nfDepartment of Pathology, Tsukuba Medical Center Hospital, Tsukuba, Japan, \n\ngDepartment of Neurology, Institute of Brain Research, University of Tokyo, Tokyo, Japan, \n\nhDepartment of Neurology, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"]},{"raw_affiliation_string":"Department of Neurology, Tokyo Medical and Dental University, 1-Chome 5\u201345, Yushima, Bunkyo-ku 113, Tokyo, Japan. Telephone 0081 3 5803 5233","institution_ids":["https://openalex.org/I125602781"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5112040398"],"corresponding_institution_ids":["https://openalex.org/I125602781","https://openalex.org/I146399215","https://openalex.org/I4210096268","https://openalex.org/I4210139512","https://openalex.org/I4210139719"],"apc_list":null,"apc_paid":null,"fwci":1.6815,"has_fulltext":true,"cited_by_count":121,"citation_normalized_percentile":{"value":0.83927128,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"67","issue":"1","first_page":"86","last_page":"89"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11335","display_name":"Prion Diseases and Protein Misfolding","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-6","display_name":"spinocerebellar ataxia type 6","score":1.0},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.7279999852180481},{"id":"https://openalex.org/keywords/purkinje-cell-loss","display_name":"Purkinje cell degeneration","score":0.7979999780654907},{"id":"https://openalex.org/keywords/familial-transmission","display_name":"family transmission","score":0.5189999938011169},{"id":"https://openalex.org/keywords/mosaicism","display_name":"mosaicism","score":0.6740000247955322},{"id":"https://openalex.org/keywords/late-onset-cerebellar-ataxia","display_name":"late-onset cerebellar ataxia","score":0.6830000281333923},{"id":"https://openalex.org/keywords/neuropathology","display_name":"neuropathology","score":0.7319999933242798}],"concepts":[{"id":"https://openalex.org/C2778472085","wikidata":"https://www.wikidata.org/wiki/Q1570272","display_name":"Purkinje cell","level":3,"score":0.6669568419456482},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.6612802147865295},{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.6612545251846313},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.6182795166969299},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.6076131463050842},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.49586209654808044},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.46317818760871887},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.42701026797294617},{"id":"https://openalex.org/C2779354088","wikidata":"https://www.wikidata.org/wiki/Q15467261","display_name":"Degeneration (medical)","level":2,"score":0.41843488812446594},{"id":"https://openalex.org/C2779321154","wikidata":"https://www.wikidata.org/wiki/Q5620438","display_name":"Inferior olivary nucleus","level":3,"score":0.4138275980949402},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.29681211709976196}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013132","descriptor_name":"Spinocerebellar Degenerations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013132","descriptor_name":"Spinocerebellar Degenerations","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D018911","descriptor_name":"Trinucleotide Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1136/jnnp.67.1.86","doi":"https://doi.org/10.1136/jnnp.67.1.86","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jnnp.67.1.86","pdf_url":"https://jnnp.bmj.com/content/jnnp/67/1/86.full.pdf","source":{"id":"https://openalex.org/S134773490","display_name":"Journal of Neurology Neurosurgery & Psychiatry","issn_l":"0022-3050","issn":["0022-3050","1468-330X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neurology, Neurosurgery &amp; Psychiatry","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1736420","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1736420","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Neurol Neurosurg Psychiatry","raw_type":"Text"},{"id":"pmid:10369828","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10369828","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of neurology, neurosurgery, and psychiatry","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.1027.5329","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1027.5329","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://jnnp.bmj.com/content/67/1/86.full.pdf","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1136/jnnp.67.1.86","doi":"https://doi.org/10.1136/jnnp.67.1.86","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jnnp.67.1.86","pdf_url":"https://jnnp.bmj.com/content/jnnp/67/1/86.full.pdf","source":{"id":"https://openalex.org/S134773490","display_name":"Journal of Neurology Neurosurgery & Psychiatry","issn_l":"0022-3050","issn":["0022-3050","1468-330X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neurology, Neurosurgery &amp; Psychiatry","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2104048906.pdf","grobid_xml":"https://content.openalex.org/works/W2104048906.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W1518863124","https://openalex.org/W1622884348","https://openalex.org/W1985866397","https://openalex.org/W1986594553","https://openalex.org/W1997391859","https://openalex.org/W2007766074","https://openalex.org/W2013029120","https://openalex.org/W2021549542","https://openalex.org/W2025197615","https://openalex.org/W2028146863","https://openalex.org/W2035428388","https://openalex.org/W2035989104","https://openalex.org/W2064551580","https://openalex.org/W2075326685","https://openalex.org/W2088984252","https://openalex.org/W2088991526","https://openalex.org/W2100065191","https://openalex.org/W2107240963","https://openalex.org/W2107813026","https://openalex.org/W2118372625","https://openalex.org/W2121987454","https://openalex.org/W2151514281","https://openalex.org/W2157513658","https://openalex.org/W2162241444","https://openalex.org/W2168302341","https://openalex.org/W2172635594","https://openalex.org/W2265428293","https://openalex.org/W6646903490","https://openalex.org/W6652348787"],"related_works":["https://openalex.org/W7095320996","https://openalex.org/W2019843374","https://openalex.org/W2101929009","https://openalex.org/W2018298525","https://openalex.org/W1973928418","https://openalex.org/W2007766074","https://openalex.org/W3042214351","https://openalex.org/W2061900664","https://openalex.org/W1991168220","https://openalex.org/W1998653010"],"abstract_inverted_index":{"To":[0],"clarify":[1],"the":[2,26,53,66,88,95,118],"clinical,":[3],"neuropathological,":[4],"and":[5,57,87,122],"molecular":[6],"characteristics":[7],"of":[8,25,52,68,117,124],"spinocerebellar":[9],"ataxia":[10],"type":[11],"6":[12],"(SCA6),":[13],"two":[14,27],"unrelated":[15],"Japanese":[16],"families":[17,28],"with":[18,65],"SCA6":[19,37,104],"were":[20,61],"studied.":[21],"A":[22],"clinical":[23],"feature":[24],"was":[29,73,90],"late":[30],"onset":[31],"\"pure\"":[32],"cerebellar":[33,45,54,112],"ataxia.":[34],"Pathologically,":[35],"three":[36],"brains":[38],"consistently":[39],"showed":[40,49,102],"Purkinje":[41,69,108],"cell":[42,70,109],"dominant":[43,110],"cortical":[44,111],"degeneration.":[46],"Morphometric":[47],"analysis":[48],"that":[50,103],"loss":[51],"granule":[55],"cells":[56],"inferior":[58],"olivary":[59],"neurons":[60],"very":[62],"mild":[63],"compared":[64],"severity":[67],"loss.":[71],"There":[72],"no":[74],"obvious":[75],"ubiquitin":[76,125],"immunoreactive":[77,126],"nuclear":[78,127],"inclusions.":[79,128],"All":[80],"affected":[81],"patients":[82],"had":[83],"identical":[84],"expanded":[85],"alleles,":[86],"expansion":[89],"also":[91],"homogeneously":[92],"distributed":[93],"throughout":[94],"brain":[96],"without":[97],"mosaicism.":[98],"The":[99],"present":[100],"study":[101],"is":[105],"characterised":[106],"by":[107],"degeneration,":[113],"highly":[114],"stable":[115],"transmission":[116],"CAG":[119],"repeat":[120],"expansion,":[121],"lack":[123]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":8}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
