Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin, and Jp-3 genes

Int J Neurosci. 2005 Feb;115(2):299-301. doi: 10.1080/00207450590519571.

Abstract

Huntington disease (HD) is a well-defined autosomal dominant neurodegenerative disease caused by CAG repeat expansions in HD gene. There are a significant number of HD cases where this mutation was not found and such cases are named HD-like phenotype (HDL). This article reports 48 patients with HDL phenotype. Patients were analyzed on the presence of mutations in prion (PrP), ferritin and junctophilin-3 (JP-3) genes. None of the patients showed the presence of the mutation in analyzed genes. This could suggest that there is some other gene/genes where the mutation can cause the disease with clinical features of HD.

MeSH terms

  • Brain / metabolism
  • DNA Mutational Analysis
  • Ferritins / genetics*
  • Ferritins / metabolism
  • Humans
  • Huntington Disease / genetics*
  • Huntington Disease / metabolism
  • Iron / metabolism
  • Membrane Proteins / genetics*
  • Phenotype*
  • Point Mutation / genetics*
  • Prions / genetics*
  • Yugoslavia

Substances

  • Membrane Proteins
  • Prions
  • junctophilin
  • Ferritins
  • Iron