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

Parkinsonism & Related Disorders
Yu FanYu-Ming Xu

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.

Citations

Jul 23, 2020·Journal of Human Genetics·Mai TsuchiyaYoshihisa Takiyama
Sep 11, 2020·Journal of Neurology·Natalia DominikHenry Houlden
Oct 18, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Gabriel da Silva SchmittMarcondes Cavalcante França
Mar 6, 2021·Journal of Neurology·Solveig MontautChristine Tranchant
Apr 23, 2021·Journal of Neurology·Matteo TagliapietraGian Maria Fabrizi
Jul 7, 2021·Current Opinion in Neurology·Roisin SullivanHenry Houlden

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