Abstract
Mutations in the alanyl-transfer RNA synthase 2 (AARS2) represent a heterogenous group of autosomal recessive leukodystrophy characterized by cognitive decline, ataxia, spasticity, and Parkinsonism. AARS2-related leukodystrophy (AARS2-L) is extremely rare. To date, only 45 genetically confirmed cases, explaining the frequent diagnostic delay. Here, we report a 21-year-old male presented with unsteady gait and weakness in the bilateral lower extremities. Examination revealed dysarthria, cerebellar ataxia, paraparesis, and Parkinsonism with generalized hyperreflexia. MRI findings showed extensive white matter lesions in bilateral frontoparietal lobes, immediate periventricular regions, and corpus callosum. Focused exome sequencing revealed compound heterozygous mutations in the AARS2 gene confirming the diagnosis of AARS2-L; two heterogeneous missense mutations (c.452T > C, p. M151T; c. 2557C > T, p. R853W) appeared together for the first time. We also reviewed phenotypic spectra of AARS2-related leukodystrophies from a total of 45 reported cases.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
