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Due to the potential response to CoQ<jats:sub>10<\/jats:sub> supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygous <jats:italic>ADCK3<\/jats:italic> variant and an unusual presentation consisting of isolated writer\u2019s cramp with adult-onset. Cerebellar ataxia developed later in the disease course and remained stable during the follow-up. This report highlights that ARCA2 should be considered in the differential diagnosis of familial writer\u2019s cramp.<\/jats:p>","DOI":"10.1007\/s10048-020-00624-3","type":"journal-article","created":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T00:02:36Z","timestamp":1598227356000},"page":"81-86","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Familial writer\u2019s cramp: a clinical clue for inherited coenzyme Q10 deficiency"],"prefix":"10.1007","volume":"22","author":[{"given":"Matthias","family":"Amprosi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Zech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Steiger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Nachbauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Eigentler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elke R.","family":"Gizewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Guger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0217-8630","authenticated-orcid":false,"given":"Elisabetta","family":"Indelicato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia","family":"Boesch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,8,24]]},"reference":[{"issue":"8","key":"624_CR1","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1001\/archneurol.2012.206","volume":"69","author":"V Emmanuele","year":"2012","unstructured":"Emmanuele V, Lopez LC, Berardo A, Naini A, Tadesse S, Wen B et al (2012) Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. 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