Article
Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14.
Internal medicine (Tokyo, Japan) - 1 Aug 2024
Ito Miwa, Sugiyama Atsuhiko, Higuchi Yujiro, Takashima Hiroshi, Takahashi Yuji, Mizusawa Hidehiro, Kuwabara Satoshi
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
