Leukoencephalopathy, Progressive, with Ovarian Failure (LKENP)

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OMIM®: ⁵⁷ Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014). (615889) (Updated 08-Dec-2022)

MalaCards based summary: Leukoencephalopathy, Progressive, with Ovarian Failure, also known as lkenp, is related to combined oxidative phosphorylation deficiency 8 and hypomyelinating leukodystrophy, and has symptoms including ataxia, tremor and muscle spasticity. An important gene associated with Leukoencephalopathy, Progressive, with Ovarian Failure is AARS2 (Alanyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include brain, and related phenotypes are cerebellar atrophy and spasticity

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Leukoencephalopathy, Progressive, with Ovarian Failure