Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14

Spinocerebellar ataxia type 14 (SCA14) is a rare form of autosomal dominant cerebellar ataxia caused by mutations in PRKCG. We herein report a case of SCA14 presenting with writer's cramp that predated the onset of progressive ataxia by four years. A 47-year-old Japanese woman had an 11-year hi...

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Bibliographic Details
Published in:Internal Medicine 2024/08/01, Vol.63(15), pp.2183-2186
Main Authors: Ito, Miwa, Sugiyama, Atsuhiko, Higuchi, Yujiro, Takashima, Hiroshi, Takahashi, Yuji, Mizusawa, Hidehiro, Kuwabara, Satoshi
Format: Article
Language:English
Subjects:
Case Report
Case reports
Cerebellar ataxia
Cerebellum
dystonia
exome sequencing
Muscle contraction
Mutation
spinocerebellar ataxias
Whole genome sequencing
writer's cramp
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Summary:Spinocerebellar ataxia type 14 (SCA14) is a rare form of autosomal dominant cerebellar ataxia caused by mutations in PRKCG. We herein report a case of SCA14 presenting with writer's cramp that predated the onset of progressive ataxia by four years. A 47-year-old Japanese woman had an 11-year history of writer's cramps, followed by unsteadiness. Whole-exome sequencing revealed a heterozygous mutation in PRKCG (p.C142S), leading to an SCA14 diagnosis. Therefore, writer's cramp might be a characteristic extracerebellar sign of SCA14 and can precede the onset of cerebellar ataxia.
ISSN:0918-2918
1349-7235
1349-7235
DOI:10.2169/internalmedicine.2943-23