Ann Indian Acad Neurol. 2025 Sep 19. doi: 10.4103/aian.aian_235_25. Online ahead of print.
ABSTRACT
Mitochondrial WARS2-related disorders are known to exhibit a broad phenotypic spectrum, ranging from infantile-onset epilepsy syndromes to hyperkinetic movement disorders. We report a case of an 11-year-old male who presented with tremors, dystonic falls, social anxiety, and impulse control disorder (ICD), with onset at 6 years of age. Genetic analysis revealed a likely compound heterozygous mutation in the WARS2 gene, involving exon 4 (p.Thr154ProfsTer66) and exon 1 (p.Trp13Gly). He demonstrated a remarkable clinical response to levodopa. This case is notable for its rarity and to our knowledge, represents the first reported instance of a WARS2-related disorder from India.
PMID:40977440 | DOI:10.4103/aian.aian_235_25
