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GENATLAS PHENOTYPE

last update : 05-07-2016

Symbol	SCAEMR
Location	16q23.1
Name	spinocerebellar ataxia, epilepsy, mental retardation
Other name(s)	autosomal recessive spinocerebellar ataxia-12
Corresponding gene	WWOX
Other symbol(s)	SCAR12
Main clinical features	generalized tonic-clonic epilepsy, ataxia and mental retardation, spasticity, gait ataxia MRI and muscle biopsy of one patient revealed, respectively, posterior white matter hyperintensities and vacuolization of the sarcotubular system (Gribaa 2007) upper and lower limb ataxia, dysarthria, gaze-evoked nystagmus, and learning difficulties; brain MRI showed mild cerebellar atrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
	mental retardation
Type	disease

Remark(s)