Adult-onset leukodystrophy with homozygous AARS2 mutation located in the aminoacylation domain.

Abstract

871 while walking. The patient was born to consanguineous parents. Neurologic examination revealed spastic paraparesis accompanied by pyramidal and pseudobulbar findings. Within the last 6 months, he had developed mild frontal executive dysfunctions while performing daily activities. Cranial magnetic resonance imaging (MRI) revealed heterogeneous white matter lesions that were hyperintense on T2 and fluid‐attenuated inversion recovery sequences. The U fibers were not involved and there was no contrast enhancement [Figure 1]. Laboratory test results were within normal limits. Whole exome analysis revealed a novel homozygous mutation, c.130G>C; p.A44P, in the AARS2 (NM_020745) gene.