No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA

Parkinsonism Relat Disord. 2020 Apr:73:1-2. doi: 10.1016/j.parkreldis.2020.02.017. Epub 2020 Feb 26.

Abstract

We screened the RFC1 intronic AAGGG repeat expansions in late-onset ataxia cases, MSA patients and controls. The data suggested that no biallelic repeat expansion carrier was found in our cohort and the heterozygous intronic AAGGG repeat expansions may not lead to an increased risk of late-onset ataxia or MSA.

Keywords: Chinese population; Intronic repeat expansion; Late-onset ataxia; Multiple system atrophy; RFC1.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Cerebellar Ataxia / genetics*
  • China
  • DNA Repeat Expansion*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Multiple System Atrophy / genetics*
  • Replication Protein C / genetics*

Substances

  • RFC1 protein, human
  • Replication Protein C