A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report.

ABSTRACT:

Background and objectives

Adult-onset leukodystrophies are a rare group of neurological disorders characterized by progressive degeneration of the cerebral white matter. One of these diseases is caused by biallelic pathogenic variants in the AARS2 gene. We describe a patient with late-onset AARS2-related leukoencephalopathy, a milder phenotype and a novel disease-causing variant.

Methods

The patient was characterized during routine clinical practice.

Results

A 40-year-old male was evaluated for chronic headaches. Six years before, he was hospitalized for a major depression with psychotic features. The first neurological examination was normal, except for a slow downbeat nystagmus. Brain MRI revealed significant hyperintensities in T2 and T2-FLAIR bilater

SUBMITTER: Fernandes J 

PROVIDER: S-EPMC11558335 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature