[RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome].
[RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome].
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Original abstract
Biallelic intronic repeat expansion in the RFC1 gene was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Its clinical features include late-onset cerebellar ataxia, sensory neuropathy (or neuronopathy), bilateral vestibular impairment, autonomic dysfunction, chronic cough, pyramidal sign, or parkinsonism. Repeat conformations heterogeneity is observed along with the possible phenotype-genotype correlation while its molecular pathogenesis remains uncovered.