A Case Report on Ataxia Neuropathy Spectrum Disorder

Abstract

Ataxia Neuropathy Spectrum (ANS) represents a complex array of neurological disorders primarily associated with POLG gene mutations. This case report examines a 25-year-old male patient presenting with a compound homozygous POLG1 mutation c.2243G>C, encoding p.Trp748Ser. Despite lacking typical clinical features of Mitochondrial Autosomal Recessive Ataxia Syndrome (MIRAS) or Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO), the patient exhibited progressive neurological symptoms including behavioural abnormalities, seizures, and motor deficits. Notably, MRI imaging revealed atypical hyperintensities in multiple brain regions, including the frontal and parietal lobes, rarely reported in ANS cases. Molecular genetic analysis highlighted a less common mutation variant, emphasizing the genetic heterogeneity within ANS.