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GENATLAS PHENOTYPE

last update : 03-11-2020

Symbol	LKENP
Location	6p21.1
Name	leukoencephalopathy, progressive, with ovarian failure
Corresponding gene	AARS2
Main clinical features	neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood and frequent history of delayed motor development or learning difficulties in early childhood decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia brain MRI shows progressive white matter signal abnormalities in the deep white matter affected females develop premature ovarian failure
Genetic determination	autosomal recessive
Function/system disorder	neurology
	sex-genitalia
Type	disease

Remark(s)