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GENATLAS PHENOTYPE

last update : 28-12-2018

Symbol	SPAX2
Location	17p13.2
Name	spastic ataxia 2
Corresponding gene	KIF1C
Other symbol(s)	SAX2, SPG58
Main clinical features	progressive cerebellar ataxia that started at 14 years of age with dysarthria, spasticity in all limbs and pyramidal signs, fasciculations in upper and/or lower limbs with involvement of upper and lowermotor neurons no skeletal deformities, sphincter disturbances, extra-pyramidal signs or cognitive impairment
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)