• Internal medicine · Aug 2024

    Case Reports

    Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14: A Case Report.

    • Miwa Ito, Atsuhiko Sugiyama, Yujiro Higuchi, Hiroshi Takashima, Yuji Takahashi, Hidehiro Mizusawa, and Satoshi Kuwabara.
    • Department of Neurology, Graduate School of Medicine, Chiba University, Japan.
    • Intern. Med. 2024 Aug 1; 63 (15): 218321862183-2186.

    AbstractSpinocerebellar 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.

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