Definition:

Leukoencephalopathy, progressive, with ovarian failure has a clinical presentation previously described as ovarioleukodystrophy. Some of the patients have a variant of vanishing white matter disease with mutations in subunits of EIF2B. Recently, novel phenotype related to AARS2 mutations has been reported. AARS2 encodes mitochondrial alanyl-tRNA synthetase. Patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. Female patients had ovarian failure.