Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
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DOI: 10.1038/s41588-019-0372-4
Abstract: Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We used non-parametric linkage analysis and… read more here.
Keywords: cause late; late onset; onset ataxia; expansion ... See more keywords