Novel mutation in exon11 of PRKCG (SCA14): A case report

Abstract

Introduction:PRKCG mutations have been implicated in the pathogenesis of spinocerebellar ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar degeneration, dysarthria, and nystagmus. Until now, there has never been a report of patients with mutations of c.1232G>C worldwide.Case description: We report a case of a 30-year-old Chinese man with episodic dystaxia, speech disorder, and cognitive impairment; however, his father exclusively exhibited a speech disorder regardless of the same mutation. Whole-exome sequencing revealed a heterozygous c.1232G>C (p.G411A) variant of PRKCG.Conclusion: This case presents an extended genotype and phenotype of SCA14, and emphasizes the importance of gene sequencing in patients with spinocerebellar ataxia.

Sensory Neuropathy in Spinocerebellar Ataxia Type 14: A Novel Phenotype

“…Most of the mutations are in exon 4 but Sun et al . [ 9 ] (2023) reported a novel mutation in exon 11 which is in the catalytic domain and the patient had episodic ataxia with speech and cognitive disorder since early childhood. Chelban et al .…”