{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T16:44:36Z","timestamp":1790095476845,"version":"4.0.1"},"reference-count":75,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T00:00:00Z","timestamp":1668384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008440","name":"International Parkinson and Movement Disorder Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Spinocerebellar ataxia type 17 or ATX\u2010<jats:italic>TBP<\/jats:italic> is a CAG\/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's disease (PD) with expanded repeats have cast doubt on the established cutoff values of the expansions and the phenotypic spectrum of this disorder. The objective of this systematic review was to explore the genotype\u2013phenotype relationships for repeat expansions in <jats:italic>TBP<\/jats:italic> to delineate the ATX\u2010<jats:italic>TBP<\/jats:italic> phenotype and reevaluate the pathological range of repeat expansions. The International Parkinson and Movement Disorder Society Genetic Mutation Database (MDSGene) standardized data extraction protocol was followed. Clinically affected carriers of reported ATX\u2010<jats:italic>TBP<\/jats:italic> expansions were included. Publications that contained repeat sizes in screened cohorts of patients with PD and\/or healthy individuals were included for a separate evaluation of cutoff values. Phenotypic and genotypic data for 346 ATX\u2010<jats:italic>TBP<\/jats:italic> patients were curated. Overall, 97.7% of the patients had \u226541 repeats, while 99.6% of patients with PD and 99.9% of healthy individuals had \u226442 repeats, with a gray zone of reduced penetrance between 41 and 45 repeats. Pure parkinsonism was more common in ATX\u2010<jats:italic>TBP<\/jats:italic> patients with 41 to 45 repeats than in the group with \u226546 repeats, which conversely more often presented with a complex phenotype with mixed movement disorders. An updated genotype\u2013phenotype assessment for ATX\u2010<jats:italic>TBP<\/jats:italic> is provided, and new repeat expansion cutoff values of reduced penetrance (41\u201345 expanded repeats) and full penetrance (46\u201366 expanded repeats) are proposed. These adjusted cutoff values will have diagnostic and counseling implications and may guide future clinical trial protocol. \u00a9 2022 The Authors. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p>","DOI":"10.1002\/mds.29278","type":"journal-article","created":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T13:24:33Z","timestamp":1668432273000},"page":"368-377","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Genotype\u2013Phenotype Correlations for <scp>ATX\u2010<i>TBP<\/i><\/scp> (<scp>SCA17<\/scp>): <scp>MDSGene<\/scp> Systematic Review"],"prefix":"10.1002","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3383-8566","authenticated-orcid":false,"given":"Malco","family":"Rossi","sequence":"first","affiliation":[{"name":"Secci\u00f3n de Movimientos Anormales, Departamento de Neurolog\u00eda Fleni  Buenos Aires Argentina"},{"name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET)  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moath","family":"Hamed","sequence":"additional","affiliation":[{"name":"New York\u2010Presbyterian Brooklyn Methodist Hospital  Brooklyn New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9316-1772","authenticated-orcid":false,"given":"Jon","family":"Rodr\u00edguez\u2010Antig\u00fcedad","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Neurology Department Sant Pau Hospital  Barcelona Spain"},{"name":"Institut d'Investigacions Biomediques\u2010Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6313-5680","authenticated-orcid":false,"given":"Mario","family":"Cornejo\u2010Olivas","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center Instituto Nacional de Ciencias Neurol\u00f3gicas  Lima Peru"},{"name":"Carrera de Medicina Universidad Cient\u00edfica del Sur  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9213-7941","authenticated-orcid":false,"given":"Marianthi","family":"Breza","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, School of Medicine Eginition Hospital, National and Kapodistrian University of Athens  Athens Greece"},{"name":"Department of Neuromuscular Disease UCL Queen Square Institute of Neurology, The National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5121-1460","authenticated-orcid":false,"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajasumi","family":"Rajalingam","sequence":"additional","affiliation":[{"name":"Edmond J. 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Safra Program in Parkinson's Disease Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart P.","family":"van de Warrenburg","sequence":"additional","affiliation":[{"name":"Department of Neurology Donders Institute for Brain, Cognition &amp; Behaviour, Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,14]]},"reference":[{"key":"e_1_2_9_2_1","article-title":"Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force \u2013 an update","volume":"5","author":"Lange LM","year":"2022","journal-title":"Mov 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