cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide

A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux.

Signs and symptoms

• Gaze-evoked nystagmus
• Gait ataxia
• Ataxia
• Saccadic smooth pursuit interruptions
• Axonal loss
• Decreased distal sensory nerve action potential
• Peripheral neuropathy
• Limb ataxia
• Dysarthria
• Cerebellar vermis atrophy

Also known as: CANVAS; hereditary sensory and autonomic neuropathy type 1B; hereditary sensory neuropathy type 1B; hereditary sensory neuropathy type IB