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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