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GENATLAS PHENOTYPE

last update : 25-03-2015

Symbol	AOA4
Location	19q13.33
Name	ataxia-oculomotor apraxia 4
Corresponding gene	PNKP
Main clinical features	neurologic disorder characterized by onset of dystonia and ataxia in the first decade, associated to oculomotor apraxia and peripheral neuropathy, cognitive impairment; this disorder is progressive, and most patients become wheelchair-bound in the second or third decade Brain imaging showed cerebellar atrophy in all patients with increased alpha-fetoprotein and cholesterol in only some patients
Genetic determination	autosomal recessive
Function/system disorder	neurology
	neuromuscular
Type	disease

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