{"id":"https://openalex.org/W2086858480","doi":"https://doi.org/10.1002/ana.410390411","title":"Spinocerebellar ataxia 3 and machado\u2010joseph disease: Clinical, molecular, and neuropathological features","display_name":"Spinocerebellar ataxia 3 and machado\u2010joseph disease: Clinical, molecular, and neuropathological features","publication_year":1996,"publication_date":"1996-04-01","ids":{"openalex":"https://openalex.org/W2086858480","doi":"https://doi.org/10.1002/ana.410390411","mag":"2086858480","pmid":"https://pubmed.ncbi.nlm.nih.gov/8619527"},"language":"en","primary_location":{"id":"doi:10.1002/ana.410390411","doi":"https://doi.org/10.1002/ana.410390411","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.410390411","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5027293126","display_name":"Alexandra D\u00fcrr","orcid":"https://orcid.org/0000-0002-8921-7104","observed_orcids":["https://orcid.org/0000-0002-8921-7104"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Alexandra Durr","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006492716","display_name":"Giovanni St\u00e9vanin","orcid":"https://orcid.org/0000-0001-9368-8657","observed_orcids":["https://orcid.org/0000-0001-9368-8657","https://orcid.org/0000-0003-2770-8407"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Giovanni Stevanin","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013493405","display_name":"G\u00e9raldine Cancel\u2010Tassin","orcid":"https://orcid.org/0000-0002-9583-6382","observed_orcids":["https://orcid.org/0000-0002-9583-6382"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Geraldine Cancel","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039383646","display_name":"Charles J. Duyckaerts","orcid":"https://orcid.org/0000-0002-2662-4810","observed_orcids":["https://orcid.org/0000-0002-2662-4810","https://orcid.org/0000-0001-9946-4611"]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Charles Duyckaerts","raw_affiliation_strings":["Service de Neuropathologie, Hospital de la Salpetriere, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neuropathologie, Hospital de la Salpetriere, Paris","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113573878","display_name":"N. Abbas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nacer Abbas","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004242022","display_name":"Olivier Didierjean","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Olivier Didierjean","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060230145","display_name":"Herv\u00e9 Chneiweiss","orcid":"https://orcid.org/0000-0001-7675-5061","observed_orcids":["https://orcid.org/0000-0001-7675-5061"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Herve Chneiweiss","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111540255","display_name":"Ali Benomar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ali Benomar","raw_affiliation_strings":["Service de Neurologic Hospital des Specialites, Rabat, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologic Hospital des Specialites, Rabat, Morocco","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019490953","display_name":"Olivier Lyon\u2010Caen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Olivier Lyon\u2010Caen","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112183512","display_name":"Jean Julien","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210120975","display_name":"H\u00f4pital Cardiologique du Haut-L\u00e9v\u00eaque","ror":"https://ror.org/02bf3a828","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443","https://openalex.org/I4210120975"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean Julien","raw_affiliation_strings":["Service de Neurologie, Hospital de Haut leveque, Pessac, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie, Hospital de Haut leveque, Pessac, France","institution_ids":["https://openalex.org/I4210120975"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011176240","display_name":"Michel Serdaru","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Michel Serdaru","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105470731","display_name":"Christiane Penet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christiane Penet","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111717236","display_name":"Yves Agid","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Yves Agid","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":["INSERM U289 and Federation de Neurologie, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and Federation de Neurologie, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5027293126"],"corresponding_institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"],"apc_list":{"value":4700,"currency":"USD","value_usd":4700},"apc_paid":null,"fwci":8.7349,"has_fulltext":false,"cited_by_count":437,"citation_normalized_percentile":{"value":0.98817866,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"39","issue":"4","first_page":"490","last_page":"499"},"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-3","display_name":"spinocerebellar ataxia type 3","score":0.9980000257492065},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.875},{"id":"https://openalex.org/keywords/autosomal-dominant-cerebellar-ataxia","display_name":"autosomal dominant cerebellar ataxia","score":0.9139999747276306},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.7979999780654907},{"id":"https://openalex.org/keywords/repeat-instability","display_name":"repeat instability","score":0.578000009059906},{"id":"https://openalex.org/keywords/supranuclear-ophthalmoplegia","display_name":"supranuclear ophthalmoplegia","score":0.875},{"id":"https://openalex.org/keywords/neuropathology","display_name":"neuropathology","score":0.7710000276565552},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-1","display_name":"spinocerebellar ataxia type 1","score":0.703000009059906},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-2","display_name":"spinocerebellar ataxia type 2","score":0.9660000205039978},{"id":"https://openalex.org/keywords/clinical-phenotype","display_name":"clinical phenotype","score":0.3540000021457672}],"concepts":[{"id":"https://openalex.org/C2777748165","wikidata":"https://www.wikidata.org/wiki/Q3026441","display_name":"Machado\u2013Joseph disease","level":4,"score":0.9509091973304749},{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.8193955421447754},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.5757871866226196},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.5604528188705444},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.5538599491119385},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5501127243041992},{"id":"https://openalex.org/C2777427615","wikidata":"https://www.wikidata.org/wiki/Q954257","display_name":"Degenerative disease","level":3,"score":0.5414945483207703},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.39282917976379395},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3638830780982971},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.340631902217865},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3385468125343323},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.28073054552078247},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2394585907459259},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.19119757413864136},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.060445159673690796}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002490","descriptor_name":"Central Nervous System","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","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":false},{"descriptor_ui":"D013132","descriptor_name":"Spinocerebellar Degenerations","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017827","descriptor_name":"Machado-Joseph Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017827","descriptor_name":"Machado-Joseph Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017827","descriptor_name":"Machado-Joseph Disease","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ana.410390411","doi":"https://doi.org/10.1002/ana.410390411","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.410390411","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},{"id":"pmid:8619527","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8619527","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":"Annals of neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W239488127","https://openalex.org/W1505199084","https://openalex.org/W1561031920","https://openalex.org/W1561216395","https://openalex.org/W1965729101","https://openalex.org/W1970972148","https://openalex.org/W1976131446","https://openalex.org/W1977626530","https://openalex.org/W1990487314","https://openalex.org/W1993136260","https://openalex.org/W1998579485","https://openalex.org/W2008706402","https://openalex.org/W2022486367","https://openalex.org/W2057072805","https://openalex.org/W2057906434","https://openalex.org/W2073012734","https://openalex.org/W2089430245","https://openalex.org/W2110008395","https://openalex.org/W2118415943","https://openalex.org/W2121053634","https://openalex.org/W2137546687","https://openalex.org/W2139655672","https://openalex.org/W2165575517","https://openalex.org/W2169266783","https://openalex.org/W2174259009","https://openalex.org/W2255469197","https://openalex.org/W2888881508"],"related_works":["https://openalex.org/W2017638810","https://openalex.org/W239488127","https://openalex.org/W2021260278","https://openalex.org/W1993423531","https://openalex.org/W2093289653","https://openalex.org/W2398306989","https://openalex.org/W85802577","https://openalex.org/W2047199968","https://openalex.org/W2417930684","https://openalex.org/W1993136260"],"abstract_inverted_index":{"Patients":[0],"with":[1,27,62,132,173,191],"spinocerebellar":[2],"ataxia":[3,31],"3":[4],"(SCA3)":[5],"and":[6,48,55,76,104,152,155,176,187,208],"Machado-Joseph":[7],"disease":[8,162],"(MJD)":[9],"carry":[10],"an":[11,42],"expanded":[12,43,47,103],"CAG":[13,44,69,99,123],"repeat":[14,57,124],"in":[15,64,205],"the":[16,49,56,65,68,87,96,102,108,122,126,145,166,185],"MJD1":[17],"gene.":[18],"One":[19],"hundred":[20],"twenty":[21],"families":[22,38],"of":[23,67,80,95,98,101,116,121,128,148,169,194],"different":[24,161],"geographic":[25],"origin":[26],"autosomal":[28],"dominant":[29],"cerebellar":[30,133],"(ADCA)":[32],"type":[33],"I":[34],"were":[35,181,203],"tested.":[36],"Thirty-four":[37],"(126":[39],"patients)":[40],"carried":[41],"repeat.":[45],"The":[46,119],"normal":[50,105],"allele":[51,106],"did":[52],"not":[53,190],"overlap":[54],"was":[58,91,157],"unstable":[59],"during":[60],"transmission,":[61],"variation":[63,147],"size":[66],"length":[70,120],"ranging":[71],"from":[72],"-8":[73],"to":[74,86],"+5":[75],"a":[77,92],"mean":[78],"expansion":[79],"0.86":[81],"repeats":[82,100],"without":[83],"differences":[84,183],"according":[85],"parental":[88],"sex.":[89],"There":[90,180],"combined":[93],"effect":[94],"number":[97],"on":[107],"age":[109],"at":[110],"onset,":[111],"which":[112],"accounted":[113],"for":[114],"70%":[115],"its":[117],"variability.":[118],"influenced":[125],"frequency":[127],"clinical":[129,167,198],"signs":[130],"associated":[131],"ataxia,":[134],"such":[135],"as":[136],"abnormal":[137],"tendon":[138],"reflexes":[139],"or":[140],"decreased":[141],"vibration":[142],"sense,":[143],"whereas":[144],"interindividual":[146],"supranuclear":[149],"ophthalmoplegia,":[150],"sphincter":[151],"swallowing":[153],"difficulties,":[154],"amyotrophy":[156],"mostly":[158],"determined":[159],"by":[160],"durations.":[163],"We":[164],"compared":[165],"profile":[168],"91":[170],"SCA3/MJD":[171,186,207],"patients":[172],"51":[174],"SCA1":[175,192,210],"32":[177],"SCA2":[178,188],"patients.":[179,195,211],"striking":[182],"between":[184],"but":[189],"groups":[193],"Despite":[196],"their":[197],"similarities,":[199],"distinct":[200],"neuropathological":[201],"features":[202],"observed":[204],"2":[206,209]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":11},{"year":2024,"cited_by_count":13},{"year":2023,"cited_by_count":11},{"year":2022,"cited_by_count":17},{"year":2021,"cited_by_count":15},{"year":2020,"cited_by_count":19},{"year":2019,"cited_by_count":12},{"year":2018,"cited_by_count":13},{"year":2017,"cited_by_count":14},{"year":2016,"cited_by_count":13},{"year":2015,"cited_by_count":15},{"year":2014,"cited_by_count":14},{"year":2013,"cited_by_count":14},{"year":2012,"cited_by_count":18}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}