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Leukoencephalopathy, progressive, with ovarian failure

Summary

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). [from OMIM]

Available tests

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AARSL, COXPD8, LKENP, MT-ALARS, MTALARS, AARS2
    Summary: alanyl-tRNA synthetase 2, mitochondrial

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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