{"id":"https://openalex.org/W7224866363","doi":"https://doi.org/10.14412/2074-2711-2026-5-115-121","title":"RFC1-associated disease with an atypical parkinsonism syndrome phenotype","display_name":"RFC1-associated disease with an atypical parkinsonism syndrome phenotype","publication_year":2026,"publication_date":"2026-10-30","ids":{"openalex":"https://openalex.org/W7224866363","doi":"https://doi.org/10.14412/2074-2711-2026-5-115-121"},"language":"en","primary_location":{"id":"doi:10.14412/2074-2711-2026-5-115-121","doi":"https://doi.org/10.14412/2074-2711-2026-5-115-121","is_oa":true,"landing_page_url":"https://doi.org/10.14412/2074-2711-2026-5-115-121","pdf_url":"https://nnp.ima-press.net/nnp/article/download/2946/2045","source":{"id":"https://openalex.org/S4210231845","display_name":"Neurology neuropsychiatry Psychosomatics","issn_l":"2074-2711","issn":["2074-2711","2310-1342"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310312717","host_organization_name":"IMA-PRESS LLC","host_organization_lineage":["https://openalex.org/P4310312717"],"host_organization_lineage_names":["IMA-PRESS LLC"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology, Neuropsychiatry, Psychosomatics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://nnp.ima-press.net/nnp/article/download/2946/2045","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5093579615","display_name":"\u041d\u0435\u0432\u0437\u043e\u0440\u043e\u0432\u0430 \u041a\u0441\u0435\u043d\u0438\u044f \u0412\u0430\u0441\u0438\u043b\u044c\u0435\u0432\u043d\u0430","orcid":"https://orcid.org/0009-0000-9148-0203","observed_orcids":["https://orcid.org/0009-0000-9148-0203"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K. V. Nevzorova","raw_affiliation_strings":["Russian Center of Neurology and Neurosciences"],"raw_orcid":"https://orcid.org/0009-0000-9148-0203","affiliations":[{"raw_affiliation_string":"Russian Center of Neurology and Neurosciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023193713","display_name":"Polina N. Astashkevich","orcid":"https://orcid.org/0000-0002-4010-0386","observed_orcids":["https://orcid.org/0000-0002-4010-0386"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P. N. Astashkevich","raw_affiliation_strings":["Russian Center of Neurology and Neurosciences"],"raw_orcid":"https://orcid.org/0000-0002-4010-0386","affiliations":[{"raw_affiliation_string":"Russian Center of Neurology and Neurosciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023288283","display_name":"\u0415\u0432\u0433\u0435\u043d\u0438\u0439 \u041f\u0435\u0442\u0440\u043e\u0432\u0438\u0447 \u041d\u0443\u0436\u043d\u044b\u0439","orcid":"https://orcid.org/0000-0003-3179-7668","observed_orcids":["https://orcid.org/0000-0003-3179-7668"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. P. Nuzhnyi","raw_affiliation_strings":["Russian Center of Neurology and Neurosciences"],"raw_orcid":"https://orcid.org/0000-0003-3179-7668","affiliations":[{"raw_affiliation_string":"Russian Center of Neurology and Neurosciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005667598","display_name":"\u041f\u0440\u043e\u0446\u0435\u043d\u043a\u043e \u0410\u0440\u0438\u043d\u0430 \u0420\u043e\u043c\u0430\u043d\u043e\u0432\u043d\u0430","orcid":"https://orcid.org/0009-0000-5290-5045","observed_orcids":["https://orcid.org/0009-0000-5290-5045"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. R. Protsenko","raw_affiliation_strings":["Russian Center of Neurology and Neurosciences"],"raw_orcid":"https://orcid.org/0009-0000-5290-5045","affiliations":[{"raw_affiliation_string":"Russian Center of Neurology and Neurosciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080017502","display_name":"Natalia Yu. Abramycheva","orcid":"https://orcid.org/0000-0001-9419-1159","observed_orcids":["https://orcid.org/0000-0001-9419-1159"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N. Yu. Abramycheva","raw_affiliation_strings":["Russian Center of Neurology and Neurosciences"],"raw_orcid":"https://orcid.org/0000-0001-9419-1159","affiliations":[{"raw_affiliation_string":"Russian Center of Neurology and Neurosciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026977380","display_name":"Alexandra I. Belyakova-Bodina","orcid":"https://orcid.org/0000-0002-2339-8483","observed_orcids":["https://orcid.org/0000-0002-2339-8483"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. I. Belyakova-Bodina","raw_affiliation_strings":["Russian Center of Neurology and Neurosciences"],"raw_orcid":"https://orcid.org/0000-0002-2339-8483","affiliations":[{"raw_affiliation_string":"Russian Center of Neurology and Neurosciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034314304","display_name":"Sergey A. Klyushnikov","orcid":"https://orcid.org/0000-0002-8752-7045","observed_orcids":["https://orcid.org/0000-0002-8752-7045"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S. A. Klyushnikov","raw_affiliation_strings":["Russian Center of Neurology and Neurosciences"],"raw_orcid":"https://orcid.org/0000-0002-8752-7045","affiliations":[{"raw_affiliation_string":"Russian Center of Neurology and Neurosciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052771533","display_name":"E. Yu. Fedotova","orcid":"https://orcid.org/0000-0001-8070-7644","observed_orcids":["https://orcid.org/0000-0001-8070-7644"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. Yu. Fedotova","raw_affiliation_strings":["Russian Center of Neurology and Neurosciences"],"raw_orcid":"https://orcid.org/0000-0001-8070-7644","affiliations":[{"raw_affiliation_string":"Russian Center of Neurology and Neurosciences","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5037780193","display_name":"Sergey Nikolaevich Illarioshkin","orcid":"https://orcid.org/0000-0002-2704-6282","observed_orcids":["https://orcid.org/0000-0002-2704-6282"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S. N. Illarioshkin","raw_affiliation_strings":["Russian Center of Neurology and Neurosciences"],"raw_orcid":"https://orcid.org/0000-0002-2704-6282","affiliations":[{"raw_affiliation_string":"Russian Center of Neurology and Neurosciences","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.73594228,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"18","issue":"5","first_page":"115","last_page":"121"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9765999913215637,"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":0.9765999913215637,"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":0.01209999993443489,"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/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.005499999970197678,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rfc1","display_name":"RFC1","score":0.8629999756813049},{"id":"https://openalex.org/keywords/canvas-syndrome","display_name":"CANVAS syndrome","score":0.7979999780654907},{"id":"https://openalex.org/keywords/atypical-parkinsonism","display_name":"atypical parkinsonism","score":0.8199999928474426},{"id":"https://openalex.org/keywords/autonomic-dysfunction","display_name":"autonomic dysfunction","score":0.8519999980926514},{"id":"https://openalex.org/keywords/cerebellar-ataxia","display_name":"cerebellar ataxia","score":0.953000009059906},{"id":"https://openalex.org/keywords/vestibulopathy","display_name":"vestibulopathy","score":0.9549999833106995},{"id":"https://openalex.org/keywords/ocular-motility-disorders","display_name":"eye movement disorders","score":0.9210000038146973},{"id":"https://openalex.org/keywords/multiple-system-atrophy","display_name":"multiple system atrophy","score":0.9150000214576721},{"id":"https://openalex.org/keywords/corticobasal-degeneration","display_name":"corticobasal degeneration","score":1.0},{"id":"https://openalex.org/keywords/synucleinopathies","display_name":"synucleinopathies","score":0.9179999828338623},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.3479999899864197}],"concepts":[{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.7382000088691711},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.7218000292778015},{"id":"https://openalex.org/C2776936178","wikidata":"https://www.wikidata.org/wiki/Q1755684","display_name":"Corticobasal degeneration","level":4,"score":0.5564000010490417},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5501000285148621},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.5302000045776367},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5295000076293945},{"id":"https://openalex.org/C190041318","wikidata":"https://www.wikidata.org/wiki/Q596832","display_name":"Vestibular system","level":2,"score":0.5228000283241272},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5213000178337097},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.5030999779701233},{"id":"https://openalex.org/C2908998664","wikidata":"https://www.wikidata.org/wiki/Q29643762","display_name":"Cerebellar Degeneration","level":3,"score":0.48980000615119934},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.448199987411499},{"id":"https://openalex.org/C94487597","wikidata":"https://www.wikidata.org/wiki/Q11101","display_name":"Sensory system","level":2,"score":0.3953000009059906},{"id":"https://openalex.org/C2776477761","wikidata":"https://www.wikidata.org/wiki/Q945930","display_name":"Progressive supranuclear palsy","level":3,"score":0.3853999972343445},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.35929998755455017},{"id":"https://openalex.org/C2776538686","wikidata":"https://www.wikidata.org/wiki/Q116275","display_name":"Myoclonus","level":2,"score":0.35580000281333923},{"id":"https://openalex.org/C2777427615","wikidata":"https://www.wikidata.org/wiki/Q954257","display_name":"Degenerative disease","level":3,"score":0.33869999647140503},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.3269999921321869},{"id":"https://openalex.org/C2779455247","wikidata":"https://www.wikidata.org/wiki/Q862872","display_name":"Fatal familial insomnia","level":4,"score":0.3239000141620636},{"id":"https://openalex.org/C2777604421","wikidata":"https://www.wikidata.org/wiki/Q2303951","display_name":"Myelopathy","level":3,"score":0.30329999327659607},{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.2906000018119812},{"id":"https://openalex.org/C2781177144","wikidata":"https://www.wikidata.org/wiki/Q896883","display_name":"Pure autonomic failure","level":4,"score":0.28839999437332153},{"id":"https://openalex.org/C552161191","wikidata":"https://www.wikidata.org/wiki/Q185080","display_name":"Midbrain","level":3,"score":0.2700999975204468},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.25999999046325684},{"id":"https://openalex.org/C2780775167","wikidata":"https://www.wikidata.org/wiki/Q9606","display_name":"Spinal cord","level":2,"score":0.2524999976158142}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.14412/2074-2711-2026-5-115-121","doi":"https://doi.org/10.14412/2074-2711-2026-5-115-121","is_oa":true,"landing_page_url":"https://doi.org/10.14412/2074-2711-2026-5-115-121","pdf_url":"https://nnp.ima-press.net/nnp/article/download/2946/2045","source":{"id":"https://openalex.org/S4210231845","display_name":"Neurology neuropsychiatry Psychosomatics","issn_l":"2074-2711","issn":["2074-2711","2310-1342"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310312717","host_organization_name":"IMA-PRESS LLC","host_organization_lineage":["https://openalex.org/P4310312717"],"host_organization_lineage_names":["IMA-PRESS LLC"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology, Neuropsychiatry, Psychosomatics","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.14412/2074-2711-2026-5-115-121","doi":"https://doi.org/10.14412/2074-2711-2026-5-115-121","is_oa":true,"landing_page_url":"https://doi.org/10.14412/2074-2711-2026-5-115-121","pdf_url":"https://nnp.ima-press.net/nnp/article/download/2946/2045","source":{"id":"https://openalex.org/S4210231845","display_name":"Neurology neuropsychiatry Psychosomatics","issn_l":"2074-2711","issn":["2074-2711","2310-1342"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310312717","host_organization_name":"IMA-PRESS LLC","host_organization_lineage":["https://openalex.org/P4310312717"],"host_organization_lineage_names":["IMA-PRESS LLC"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology, Neuropsychiatry, Psychosomatics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7224866363.pdf","grobid_xml":"https://content.openalex.org/works/W7224866363.grobid-xml"},"referenced_works_count":21,"referenced_works":["https://openalex.org/W2144707045","https://openalex.org/W2933273758","https://openalex.org/W3005188864","https://openalex.org/W3018433116","https://openalex.org/W3092788560","https://openalex.org/W3110730412","https://openalex.org/W3123380966","https://openalex.org/W3128249280","https://openalex.org/W4206699224","https://openalex.org/W4289778777","https://openalex.org/W4293499412","https://openalex.org/W4298088705","https://openalex.org/W4312115195","https://openalex.org/W4386447217","https://openalex.org/W4386725067","https://openalex.org/W4390777742","https://openalex.org/W4394803747","https://openalex.org/W4398762620","https://openalex.org/W4406137637","https://openalex.org/W4409522128","https://openalex.org/W7122732227"],"related_works":["https://openalex.org/W7122732227","https://openalex.org/W4298088705","https://openalex.org/W3127948504","https://openalex.org/W4318263868","https://openalex.org/W4413570387","https://openalex.org/W4200146429","https://openalex.org/W4206699224","https://openalex.org/W4205428551","https://openalex.org/W3005188864","https://openalex.org/W4280519743"],"abstract_inverted_index":{"In":[0,30],"2019,":[1],"it":[2],"was":[3,81],"established":[4],"that":[5,152],"biallelic":[6,75,138],"expansion":[7],"of":[8,15,22,36,62,70,103,120,147,161,165,174,184],"pentanucleotide":[9],"AAGGG":[10],"repeats":[11],"in":[12,114],"intron":[13],"2":[14],"the":[16,20,33,44,56,67,115,129,144,162,172,182],"RFC1":[17,76,139],"gene":[18],"is":[19],"cause":[21],"CANVAS":[23],"(Cerebellar":[24],"Ataxia,":[25],"Neuropathy,":[26],"Vestibular":[27],"Areflexia":[28],"Syndrome).":[29],"addition":[31],"to":[32],"classic":[34],"triad":[35],"symptoms":[37],"(cerebellar":[38],"ataxia,":[39],"sensory":[40,94,121],"neuropathy,":[41,122],"vestibular":[42,126],"areflexia),":[43],"condition":[45],"may":[46,158],"be":[47],"accompanied":[48],"by":[49,83],"extrapyramidal":[50],"and":[51,88,99,109,125,150,154],"autonomic":[52,89,156],"disturbances,":[53],"which":[54,135],"complicates":[55],"differential":[57,116],"diagnosis":[58],"with":[59,74,178],"atypical":[60],"forms":[61],"parkinsonism.":[63],"This":[64,141],"article":[65],"presents":[66],"clinical":[68,79,163],"case":[69,142],"a":[71,137],"69-year-old":[72],"patient":[73],"expansion,":[77],"whose":[78],"presentation":[80],"dominated":[82],"asymmetric":[84],"parkinsonism,":[85],"sensory-cerebellar":[86],"ataxia":[87,124],"dysfunction.":[90],"Instrumental":[91],"studies":[92],"revealed":[93],"axonal":[95],"polyneuropathy,":[96],"bilateral":[97],"vestibulopathy":[98],"oculomotor":[100],"disturbances":[101],"characteristic":[102],"cerebellar":[104,123],"involvement.":[105],"Multiple":[106],"system":[107],"atrophy":[108],"corticobasal":[110],"degeneration":[111],"were":[112],"considered":[113],"diagnosis.":[117],"The":[118,168],"combination":[119],"areflexia":[127],"formed":[128],"basis":[130],"for":[131],"molecular":[132],"genetic":[133],"testing,":[134],"confirmed":[136],"expansion.":[140],"highlights":[143],"multisystem":[145],"nature":[146],"RFC1-associated":[148,175],"disorders":[149],"demonstrates":[151],"parkinsonism":[153],"early":[155],"dysfunction":[157],"form":[159],"part":[160],"spectrum":[164],"this":[166],"condition.":[167],"findings":[169],"also":[170],"raise":[171],"possibility":[173],"disease":[176],"co-occurring":[177],"neurodegenerative":[179],"processes":[180],"from":[181],"group":[183],"\u03b1-synucleinopathies.":[185]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-10-31T00:00:00"}