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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-08-2019
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))