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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease