Article

Investigation of<i>RFC1</i>tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort

2023-06-08

Abstract excerpt

<h4>Background and Objectives</h4> An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG) 400-2000 at AAAAG repeat locus in RFC1 gene is known as underlying genetic cause in cases with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) and late onset sporadic ataxia. Biallelic positive cases carry a common recessive risk haplotype, ‘AAGA’ spanning RFC1 gene. In this study o...

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Literature Corpus work: 62e2582e-5e10-503f-ae46-61f06ffb6317
DOI: 10.1101/2023.06.05.23290839

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