Leukoencephalopathy, Progressive, with Ovarian Failure

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OMIM 57 615889 MedGen 42 C4014588 CN197313 MeSH 44 D016649 D056784

SNOMED-CT via HPO 69 258211005 563001 21061000119107 35489007 78667006 52448006 85102008 221360009 397790002 8011004 95646004 26079004 68345001 6950007 252157006 255314001 230769007 373717006 more UMLS 73 C4014588

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)

MalaCards based summary : Leukoencephalopathy, Progressive, with Ovarian Failure, is also known as lkenp, and has symptoms including ataxia, muscle spasticity and tremor. 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 nystagmus and depressivity

UniProtKB/Swiss-Prot : ⁷⁵ 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.