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GENATLAS PHENOTYPE

last update : 13-10-2012

Symbol	SPAX1
Location	12p13
HGNC id	16474
Name	spastic ataxia 1
Corresponding gene	VAMP1
Other symbol(s)	SAS1, SAX1
Main clinical features	dysarthria, dysphagia and ocular-movement abnormalities lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysphagia, dysarthria, and gait disturbance supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)