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GENATLAS PHENOTYPE

last update : 20-05-2015

Symbol	SPAX3
Location	2q33.1
Name	spastic ataxia 3
Other name(s)	autosomal recessive spastic ataxia with leukoencephalopathy
Corresponding gene	MARS2
Other symbol(s)	ARSAL
Main clinical features	spastic ataxia and brain white matter changes onset with a mean age of 15 years, ataxic gait, spasticity, and hyperreflexia, urinary urgency, dysarthria, dystonic positioning, mild horizontal nystagmus, scoliosis, and mild hearing impairment neuroimaging studies showed cerebellar atrophy in all patients and cerebral atrophy in 43 p100 patients
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)

. MARS2 duplications may dysregulate transcription, possibly by affecting the size, composition, or methylation ability of the CpG islands (PMID: 22448145)) reduced levels of MARS2 protein in humans result in aberrant translation of the Respiratory Chain and concomitant production of ROS (PMID: 22448145))