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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-05-2009
Symbol SCA18
Location 7q22-q31
HGNC id 15744
Name spinocerebellar ataxia 18
Other name(s) sensorymotor neuropathy with ataxia
Corresponding gene IFRD1
Other symbol(s) SMNA
Main clinical features
  • axonal sensory neuropathy with neurogenic muscular atrophy, poor coordination of hands, speech, and eye neuropathy , progressive sensory loss
  • later in the disease, cerebellar and motor-tract dysfunction develops; at MRI mild cerebellar atrophy
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name IFRD1 candidate gene