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Article

Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency.

Neurogenetics - 1 Mar 2021

Amprosi Matthias, Zech Michael, Steiger Ruth, Nachbauer Wolfgang, Eigentler Andreas, Gizewski Elke R, Guger Michael, Indelicato Elisabetta, Boesch Sylvia

Abstract excerpt

The spectrum of coenzyme Q10 (CoQ10) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain-containing kinase 3 gene (ADCK3). Due to the potential response to CoQ10 supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygous ADCK3 variant and an unusual presentation...

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Identifiers

PMID: 32830305
DOI: 10.1007/s10048-020-00624-3
PMCID: PMC7997836

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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