{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T04:39:01Z","timestamp":1780461541294,"version":"3.54.1"},"reference-count":35,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,9,28]],"date-time":"2024-09-28T00:00:00Z","timestamp":1727481600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100022720","name":"Fondazione Regionale per la Ricerca Biomedica","doi-asserted-by":"publisher","award":["825575"],"award-info":[{"award-number":["825575"]}],"id":[{"id":"10.13039\/501100022720","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spinocerebellar ataxia type 21 (SCA21) is a rare inherited neurological disorder characterized by motor, cognitive, and behavioral disturbances, caused by autosomal dominant <jats:italic>TMEM240<\/jats:italic> variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To identify the genetic cause of a dystonic tremor with autosomal dominant inheritance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Six subjects of a multi\u2010generational French family affected by tremor and dystonia were studied. Each patient underwent a comprehensive clinical assessment and a whole\u2010exome sequencing analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All six subjects presented with early\u2010onset prominent hand dystonic tremor and multifocal\/generalized dystonia, secondarily developing mild cerebellar ataxia. The younger generation showed more pronounced cognitive and behavioral impairment. The known pathogenic <jats:italic>TMEM240<\/jats:italic> c.509C&gt;T (p.P170L) variant was found in heterozygosis in all subjects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Dystonic tremor can represent the core clinical feature of SCA21, even in absence of overt cerebellar ataxia. Therefore, <jats:italic>TMEM240<\/jats:italic> pathogenic variants should be considered disease\u2010causing in subjects displaying dystonic tremor, variably associated with ataxia, parkinsonism, neurodevelopmental disorders, and cognitive impairment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.14220","type":"journal-article","created":{"date-parts":[[2024,9,28]],"date-time":"2024-09-28T03:48:52Z","timestamp":1727495332000},"page":"1445-1450","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Dystonic Tremor as Main Clinical Manifestation of SCA21"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7781-653X","authenticated-orcid":false,"given":"Vidal","family":"Yahya","sequence":"first","affiliation":[{"name":"Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"},{"name":"Dino Ferrari Center, Department of Pathophysiology and Transplantation 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