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GENATLAS PHENOTYPE

last update : 02-12-2010

Symbol	SPAX4
Location	10p11
Name	spastic ataxia 4 with optic atrophy
Corresponding gene	MTPAP
Main clinical features	spastic ataxia with optic atrophy progressive cerebellar ataxia (limb and truncal), spastic paraparesis (increased lower limb tone with brisk knee jerks and extensor plantars, but no weakness), dysarthria (mixture of cerebellar and spastic), optic atrophy, learning difficulties, and, in some, emotional liability
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)