A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.

ABSTRACT:

Background

Mutations in TGM6 gene, encoding for transglutaminase 6 (TG6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (SCA35), a rare autosomal dominant disease marked by cerebellar degeneration and characterized by postural instability, incoordination of gait, features of cerebellar dysfunction and pyramidal signs.

Case presentation

Here we report the case of an Italian patient with late-onset, slowly progressive cerebellar features, including gait ataxia, scanning speech and ocular dysmetria and pyramidal tract signs. Whole exome sequencing revealed the rare heterozygous c.1024C > T (p.R342W) variant of TGM6, located at a highly evolutionary conserved position and predicted as pathogenic by in silico tools. Expression of TG6-R342W mutant in H

SUBMITTER: Manini A 

PROVIDER: S-EPMC7648302 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature