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GENATLAS PHENOTYPE

last update : 26-08-2019

Symbol	CANVAS
Location	4p14
Name	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Corresponding gene	RFC1
Main clinical features	adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy combined cerebellar, vestibular, and somatosensory dysfunction brain MRI showed cerebellar atrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

. homozygous repeat expansion (AAGGG(n)) in the RFC1 gene (PMID: 31230722))