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

ABSTRACT: 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 consisting of isolated writer's 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's cramp.

SUBMITTER: Amprosi M

PROVIDER: S-EPMC7997836 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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

Amprosi Matthias M Zech Michael M Steiger Ruth R Nachbauer Wolfgang W Eigentler Andreas A Gizewski Elke R ER Guger Michael M Indelicato Elisabetta E Boesch Sylvia S

Neurogenetics 20200824 1

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 consisting of isolated writer's cramp with adult-o ...[more]

PMID: 32830305

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