Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation

Cerebellum. 2019 Apr;18(2):291-294. doi: 10.1007/s12311-018-0978-6.

Abstract

Genetic mutations in transglutaminase 6 (TGM6) are recently identified to be associated with spinocerebellar ataxia type 35 (SCA35). We report a Hispanic SCA35 patient, who was confirmed to have a heterozygous, single-nucleotide deletion in TGM6, causing a frameshift mutation with a premature stop codon. An immune-mediated ataxia previously found to be associated with autoantibody reactivity to TG6 may share a similar pathomechanism to SCA35, suggesting a converging role for TG6 in cerebellar function.

Keywords: Cerebellum; Gluten; SCA35; Spinocerebellar ataxia; TGM6; Transglutaminase.

MeSH terms

  • Aged
  • Diet, Gluten-Free
  • Female
  • Frameshift Mutation*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Spinocerebellar Ataxias / diet therapy
  • Spinocerebellar Ataxias / enzymology*
  • Spinocerebellar Ataxias / genetics*
  • Transglutaminases / genetics*

Substances

  • TGM6 protein, human
  • Transglutaminases