Leukoencephalopathy, Progressive, with Ovarian Failure (LKENP)

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OMIM 58 615889 KEGG 38 H02200 MeSH 45 D016649 D056784

MedGen 43 C4014588 CN197313 SNOMED-CT via HPO 70 21061000119107 221360009 230769007 252157006 255314001 258211005 26079004 35489007 373717006 397790002 52448006 563001 68345001 6950007 78667006 8011004 85102008 95646004 more UMLS 74 C4014588

OMIM : ⁵⁸ 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)

MalaCards based summary : Leukoencephalopathy, Progressive, with Ovarian Failure, is also known as lkenp, 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 nystagmus

UniProtKB/Swiss-Prot : ⁷⁶ Leukoencephalopathy, progressive, with ovarian failure: 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:

615889

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

Search GEO for disease gene expression data for Leukoencephalopathy, Progressive, with Ovarian Failure.