{"id":"https://openalex.org/W2165588461","doi":"https://doi.org/10.1212/wnl.53.6.1355","title":"Clinical and MRI findings in spinocerebellar ataxia type 5","display_name":"Clinical and MRI findings in spinocerebellar ataxia type 5","publication_year":1999,"publication_date":"1999-10-01","ids":{"openalex":"https://openalex.org/W2165588461","doi":"https://doi.org/10.1212/wnl.53.6.1355","mag":"2165588461","pmid":"https://pubmed.ncbi.nlm.nih.gov/10522902"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.53.6.1355","doi":"https://doi.org/10.1212/wnl.53.6.1355","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.53.6.1355","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"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/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"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/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/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":false,"raw_author_name":"Giovanni Stevanin","raw_affiliation_strings":["From INSERM U289 (A. Herman and Drs. StevaninBrice, and Du\u0308rr) and Fe\u0301de\u0301ration de Neurologie (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (A. Herman and Drs. StevaninBrice, and Du\u0308rr) and Fe\u0301de\u0301ration de Neurologie (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Alexandra Herman","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/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":false,"raw_author_name":"Alexandra Herman","raw_affiliation_strings":["From INSERM U289 (A. Herman and Drs. StevaninBrice, and Du\u0308rr) and Fe\u0301de\u0301ration de Neurologie (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (A. Herman and Drs. StevaninBrice, and Du\u0308rr) and Fe\u0301de\u0301ration de Neurologie (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","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/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":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":["From INSERM U289 (A. Herman and Drs. StevaninBrice, and Du\u0308rr) and Fe\u0301de\u0301ration de Neurologie (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (A. Herman and Drs. StevaninBrice, and Du\u0308rr) and Fe\u0301de\u0301ration de Neurologie (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"last","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":false,"raw_author_name":"Alexandra Du\u0308rr","raw_affiliation_strings":["From INSERM U289 (A. Herman and Drs. StevaninBrice, and Du\u0308rr) and Fe\u0301de\u0301ration de Neurologie (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (A. Herman and Drs. StevaninBrice, and Du\u0308rr) and Fe\u0301de\u0301ration de Neurologie (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.5147,"has_fulltext":false,"cited_by_count":76,"citation_normalized_percentile":{"value":0.8178634,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"53","issue":"6","first_page":"1355","last_page":"1355"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9994999766349792,"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":0.9994999766349792,"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":9.999999747378752e-05,"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-5","display_name":"spinocerebellar ataxia type 5","score":1.0},{"id":"https://openalex.org/keywords/autosomal-dominant-cerebellar-ataxia","display_name":"autosomal dominant cerebellar ataxia","score":0.9120000004768372},{"id":"https://openalex.org/keywords/chromosome-11","display_name":"chromosome 11","score":0.7730000019073486},{"id":"https://openalex.org/keywords/cerebellar-atrophy","display_name":"cerebellar atrophy","score":0.8159999847412109},{"id":"https://openalex.org/keywords/mri-findings","display_name":"MRI findings","score":0.7059999704360962},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.6819999814033508},{"id":"https://openalex.org/keywords/familial-ataxia","display_name":"familial ataxia","score":0.5649999976158142},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-6","display_name":"spinocerebellar ataxia type 6","score":0.6119999885559082}],"concepts":[{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.7895025014877319},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.5800851583480835},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.544326663017273},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.49784350395202637},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.4751327335834503},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42108237743377686},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3857072591781616},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.36507880687713623},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.338936448097229},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.31856590509414673}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020754","descriptor_name":"Spinocerebellar Ataxias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020754","descriptor_name":"Spinocerebellar Ataxias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1212/wnl.53.6.1355","doi":"https://doi.org/10.1212/wnl.53.6.1355","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.53.6.1355","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"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/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmid:10522902","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10522902","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":"Neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W26813210","https://openalex.org/W1976131446","https://openalex.org/W1982682847","https://openalex.org/W1996320627","https://openalex.org/W2025497083","https://openalex.org/W2064551580","https://openalex.org/W2076171276","https://openalex.org/W2107632226","https://openalex.org/W2107813026","https://openalex.org/W2116210148"],"related_works":["https://openalex.org/W1681882273","https://openalex.org/W1976131446","https://openalex.org/W307433557","https://openalex.org/W2019737639","https://openalex.org/W2487062608","https://openalex.org/W2467328742","https://openalex.org/W4214921628","https://openalex.org/W2034999683","https://openalex.org/W3099183827","https://openalex.org/W2574737181"],"abstract_inverted_index":{"Spinocerebellar":[0],"ataxia":[1],"type":[2],"5":[3],"(SCA5),":[4],"one":[5],"of":[6,27,39],"the":[7,25,55],"genetically":[8],"heterogeneous":[9],"autosomal":[10],"dominant":[11],"cerebellar":[12,50,69],"ataxias,":[13],"was":[14,46],"assigned":[15],"to":[16,62,72],"chromosome":[17],"11":[18],"in":[19,54],"a":[20,33,47,66],"single":[21],"family":[22,38],"descending":[23],"from":[24],"grandparents":[26],"President":[28],"Abraham":[29],"Lincoln.":[30],"We":[31],"report":[32],"second,":[34],"apparently":[35],"unrelated,":[36],"SCA5":[37],"French":[40],"origin.":[41],"The":[42],"overall":[43],"clinical":[44],"picture":[45],"slowly":[48],"progressive":[49],"syndrome":[51],"beginning":[52],"mostly":[53],"third":[56],"decade":[57],"(27+/-10":[58],"years,":[59],"range":[60],"14":[61],"40).":[63],"MRI":[64],"showed":[65],"marked":[67],"global":[68],"atrophy":[70],"similar":[71],"SCA6.":[73]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
