progressive leukoencephalopathy with ovarian failure

An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21.

Signs and symptoms

• Periventricular leukomalacia
• Cytochrome C oxidase-negative muscle fibers
• Developmental regression
• Leukoencephalopathy
• Premature ovarian insufficiency
• Cerebellar atrophy
• Hyperreflexia
• Ataxia
• Babinski sign
• Neurodegeneration