Ontology highlight
ABSTRACT:
SUBMITTER: Akcimen F
PROVIDER: S-EPMC6884024 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Akçimen Fulya F Ross Jay P JP Bourassa Cynthia V CV Liao Calwing C Rochefort Daniel D Gama Maria Thereza Drumond MTD Dicaire Marie-Josée MJ Barsottini Orlando G OG Brais Bernard B Pedroso José Luiz JL Dion Patrick A PA Rouleau Guy A GA
Frontiers in genetics 20191122
A biallelic pentanucleotide expansion in the <i>RFC1</i> gene has been reported to be a common cause of late-onset ataxia. In the general population, four different repeat conformations are observed: wild type sequence AAAAG (11 repeats) and longer expansions of either AAAAG, AAAGG or AAGGG sequences. However only the biallelic AAGGG expansions were reported to cause late-onset ataxia. In this study, we aimed to assess the prevalence and nature of <i>RFC1</i> repeat expansions in three cohorts o ...[more]