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

The spectrum of coenzyme Q 10 (CoQ 10 ) 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 CoQ 10 supplementation, a timel...

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Vydáno v:Neurogenetics Ročník 22; číslo 1; s. 81 - 86
Hlavní autoři: Amprosi, Matthias, Zech, Michael, Steiger, Ruth, Nachbauer, Wolfgang, Eigentler, Andreas, Gizewski, Elke R., Guger, Michael, Indelicato, Elisabetta, Boesch, Sylvia
Médium: Journal Article
Jazyk:angličtina
Vydáno: Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2021
Springer Nature B.V
Témata:
Ataxia
Biomedical and Life Sciences
Biomedicine
Cerebellar ataxia
Cerebellum
Coenzyme Q10
Differential diagnosis
Human Genetics
Molecular Medicine
Neurology
Neurosciences
Short Communication
Supplements
Magnetic resonance spectroscopy
Ataxia
Coenzyme Q
Ubiquinone
Dystonia
Mitochondrial disease
ISSN:1364-6745, 1364-6753, 1364-6753
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Shrnutí:The spectrum of coenzyme Q 10 (CoQ 10 ) 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 CoQ 10 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.
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ISSN:1364-6745
1364-6753
1364-6753
DOI:10.1007/s10048-020-00624-3