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GENATLAS PHENOTYPE
last update : 8/09/2006
Symbol SCAN1
Location 14q32.11
Name spinocerebellar ataxia with axonal neuropathy
Corresponding gene TDP1
Main clinical features
  • cerebellar ataxia and axonal neuropathy, associated to seizures, with mild brain atrophy to MRI analysis . ataxia associated with marked cerebellar atrophy, peripheral neuropathy and distal muscle weakness
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name tyrosyl DNA phosphodiesterase 1