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

Intern Med. 2024 Aug 1;63(15):2183-2186. doi: 10.2169/internalmedicine.2943-23. Epub 2023 Dec 11.

Abstract

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.

Keywords: dystonia; exome sequencing; spinocerebellar ataxias; writer's cramp.

Publication types

  • Case Reports

MeSH terms

  • Dystonic Disorders* / diagnosis
  • Dystonic Disorders* / etiology
  • Dystonic Disorders* / genetics
  • Exome Sequencing
  • Female
  • Heterozygote
  • Humans
  • Middle Aged
  • Mutation
  • Protein Kinase C
  • Spinocerebellar Ataxias* / complications
  • Spinocerebellar Ataxias* / diagnosis
  • Spinocerebellar Ataxias* / genetics

Substances

  • protein kinase C gamma
  • Protein Kinase C

Supplementary concepts

  • Spinocerebellar ataxia 14