{"id":"https://openalex.org/W2129166113","doi":"https://doi.org/10.1093/brain/117.3.445","title":"Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight familes","display_name":"Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight familes","publication_year":1994,"publication_date":"1994-01-01","ids":{"openalex":"https://openalex.org/W2129166113","doi":"https://doi.org/10.1093/brain/117.3.445","mag":"2129166113","pmid":"https://pubmed.ncbi.nlm.nih.gov/8032856"},"language":"en","primary_location":{"id":"doi:10.1093/brain/117.3.445","doi":"https://doi.org/10.1093/brain/117.3.445","is_oa":false,"landing_page_url":"https://doi.org/10.1093/brain/117.3.445","pdf_url":null,"source":{"id":"https://openalex.org/S118357697","display_name":"Brain","issn_l":"0006-8950","issn":["0006-8950","1460-2156"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5088785959","display_name":"T P Enevoldson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210151618","display_name":"National Hospital for Neurology and Neurosurgery","ror":"https://ror.org/048b34d51","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1340918713","https://openalex.org/I4210151618"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"T. P. Enevoldson","raw_affiliation_strings":["National Hospital for Neurology and Neurosurgery, Institute of Neurology, London, UK","National Hospital for Neurology and NeurosurgeryLondon, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Hospital for Neurology and Neurosurgery, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I4210151618","https://openalex.org/I4405260083"]},{"raw_affiliation_string":"National Hospital for Neurology and NeurosurgeryLondon, UK","institution_ids":["https://openalex.org/I4210151618"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086836044","display_name":"Michael D. Sanders","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210151618","display_name":"National Hospital for Neurology and Neurosurgery","ror":"https://ror.org/048b34d51","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1340918713","https://openalex.org/I4210151618"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. D. Sanders","raw_affiliation_strings":["National Hospital for Neurology and Neurosurgery London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Hospital for Neurology and Neurosurgery London, UK","institution_ids":["https://openalex.org/I4210151618"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071867646","display_name":"A. E. Harding","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210151618","display_name":"National Hospital for Neurology and Neurosurgery","ror":"https://ror.org/048b34d51","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1340918713","https://openalex.org/I4210151618"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"A. E. Harding","raw_affiliation_strings":["Department of Clinical Neurology, Institute of Neurology London, UK","National Hospital for Neurology and Neurosurgery London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Neurology, Institute of Neurology London, UK","institution_ids":["https://openalex.org/I4405260083"]},{"raw_affiliation_string":"National Hospital for Neurology and Neurosurgery London, UK","institution_ids":["https://openalex.org/I4210151618"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5071867646"],"corresponding_institution_ids":["https://openalex.org/I4210151618","https://openalex.org/I4405260083"],"apc_list":{"value":4224,"currency":"GBP","value_usd":5570},"apc_paid":null,"fwci":1.3133,"has_fulltext":false,"cited_by_count":137,"citation_normalized_percentile":{"value":0.78142117,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"117","issue":"3","first_page":"445","last_page":"460"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9955999851226807,"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":0.9955999851226807,"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":0.0017999999690800905,"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/autosomal-dominant-cerebellar-ataxia","display_name":"autosomal dominant cerebellar ataxia","score":0.972000002861023},{"id":"https://openalex.org/keywords/vision-loss","display_name":"vision loss","score":0.47600001096725464},{"id":"https://openalex.org/keywords/pyramidal-tract-signs","display_name":"pyramidal tract signs","score":0.7979999780654907},{"id":"https://openalex.org/keywords/supranuclear-ophthalmoplegia","display_name":"supranuclear ophthalmoplegia","score":0.9940000176429749},{"id":"https://openalex.org/keywords/genetic-anticipation","display_name":"genetic anticipation","score":0.7179999947547913},{"id":"https://openalex.org/keywords/trinucleotide-repeat-expansion","display_name":"trinucleotide repeat expansion","score":0.9409999847412109},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.38999998569488525},{"id":"https://openalex.org/keywords/pedigree-analysis","display_name":"pedigree analysis","score":0.5849999785423279}],"concepts":[{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.6926299929618835},{"id":"https://openalex.org/C176777502","wikidata":"https://www.wikidata.org/wiki/Q4774623","display_name":"Anticipation (artificial intelligence)","level":2,"score":0.6490595936775208},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.641637921333313},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.49714115262031555},{"id":"https://openalex.org/C2776477761","wikidata":"https://www.wikidata.org/wiki/Q945930","display_name":"Progressive supranuclear palsy","level":3,"score":0.4891350567340851},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.488521933555603},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.47272413969039917},{"id":"https://openalex.org/C2778063965","wikidata":"https://www.wikidata.org/wiki/Q1860507","display_name":"Myotonic dystrophy","level":2,"score":0.4648441672325134},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3927636742591858},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.38271647691726685},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.3319573402404785},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.32975101470947266},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3026764392852783},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.28785204887390137},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.19975429773330688},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.16455906629562378},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1137213408946991},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.0},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001766","descriptor_name":"Blindness","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004585","descriptor_name":"Electrooculography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008266","descriptor_name":"Macula Lutea","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/brain/117.3.445","doi":"https://doi.org/10.1093/brain/117.3.445","is_oa":false,"landing_page_url":"https://doi.org/10.1093/brain/117.3.445","pdf_url":null,"source":{"id":"https://openalex.org/S118357697","display_name":"Brain","issn_l":"0006-8950","issn":["0006-8950","1460-2156"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain","raw_type":"journal-article"},{"id":"pmid:8032856","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8032856","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":"Brain : a journal of neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"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":0,"referenced_works":[],"related_works":["https://openalex.org/W2396899033","https://openalex.org/W2087621630","https://openalex.org/W2120623874","https://openalex.org/W2411284004","https://openalex.org/W1561734172","https://openalex.org/W167967671","https://openalex.org/W2044295706","https://openalex.org/W2172635594","https://openalex.org/W7097863328","https://openalex.org/W2911941364"],"abstract_inverted_index":{"We":[0],"describe":[1],"54":[2],"members":[3],"of":[4,31,74,97,106,110,149],"eight":[5],"families":[6],"with":[7,15,53,69],"a":[8,20,66,87],"distinct":[9],"autosomal":[10],"dominant":[11],"cerebellar":[12],"ataxia":[13,28],"associated":[14],"visual":[16,34,56],"failure":[17,35],"secondary":[18],"to":[19,113],"pigmentary":[21],"macular":[22,42],"dystrophy.":[23],"The":[24,41],"presenting":[25],"symptom":[26],"was":[27,117],"in":[29,38,47,51,103,129,143],"two-thirds":[30],"patients":[32],"and":[33,65,76,85,101,132,135],"or":[36],"both":[37],"the":[39,95,104,111,140],"remainder.":[40],"abnormalities":[43],"were":[44,79],"often":[45],"subtle":[46],"early":[48],"cases,":[49],"even":[50,82],"some":[52],"moderately":[54],"reduced":[55],"acuity.":[57],"Other":[58],"neurological":[59],"features":[60],"included":[61,86],"pyramidal":[62],"tract":[63],"signs":[64],"supranuclear":[67],"ophthalmoplegia":[68],"progressive":[70],"saccadic":[71],"palsy.":[72],"Ages":[73],"onset":[75],"clinical":[77],"course":[78],"very":[80],"variable,":[81],"within":[83],"families,":[84],"rapidly":[88],"progressive,":[89],"infantile-onset":[90,115],"phenotype.":[91],"Pedigree":[92],"analysis":[93],"showed":[94],"existence":[96],"non-manifesting":[98],"obligate":[99],"carriers":[100],"anticipation":[102],"offspring":[105],"affected":[107,121],"fathers;":[108],"transmission":[109],"disease":[112,134],"severe,":[114],"cases":[116],"always":[118],"from":[119],"an":[120,150],"father.":[122],"Similar":[123],"genetic":[124],"phenomena":[125],"have":[126],"been":[127],"reported":[128],"myotonic":[130],"dystrophy":[131],"Huntington's":[133],"it":[136],"is":[137],"likely":[138],"that":[139],"gene":[141],"mutation":[142],"this":[144],"condition":[145],"will":[146],"similarly":[147],"consist":[148],"unstable":[151],"trinucleotide":[152],"repeat":[153],"expansion.":[154]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
