Article

Prevalence of <i>RFC1</i> -Mediated Spinocerebellar Ataxia in a United States Ataxia Cohort

2019-10-01

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> Repeat expansions in RFC1 and DAB1 have recently been identified as causing cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) and spinocerebellar ataxia 37 (SCA37), respectively. We evaluated the prevalence of these repeat-expansions in an undiagnosed ataxia cohort from the United States. <h4>Methods</h4> A cohort of 596 patients with undiagnosed fa...

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Literature Corpus work: 706fe79e-fc57-5a25-8eea-2566c1a3fc7d
DOI: 10.1101/790006

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