AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (ARSACS): CASE REPORT

Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, spasticity, and sensorimotor polyneuropathy. It was initially described in Canada but is now being increasingly recognized worldwide. ARSACS is caused by pathogenic mutations in the SACS gene, with new mutations being continuously identified. We report a 28-year-old male from India, born of a non- Case Presentation: consanguineous marriage, who presented with progressive gait ataxia and recurrent falls from 3 years of age. Additional symptoms included dysarthria, lower limb stiffness, and distal muscle wasting. Examination revealed bilateral pes cavus, hammer toes, spasticity, brisk reflexes, extensor plantar response, and cerebellar signs. MRI brain showed superior cerebellar vermian atrophy and characteristic pontine linear T2 hypointensities. Nerve conduction studies indicated predominant demyelinating neuropathy. Genetic testing identified a novel pathogenic nonsense mutation (C,4232T > G) and another mutation of uncertain significance (C,8132C > T) in exon 10 of the SACS gene, confirming the diagnosis of ARSACS. ARSACS is often misdiagnosed as cerebral palsy or other hereditary ataxias. The presence of Discussion: early-onset ataxia with spasticity and peripheral neuropathy, combined with characteristic MRI findings, strongly suggests ARSACS. While previously reported mainly in Canada, this case highlights its occurrence in India and contributes to the expanding spectrum of SACS mutations. ARSACS Conclusion: should be considered in cases of early-onset ataxia with spasticity and neuropathy. MRI findings significantly aid in diagnosis, which is ultimately confirmed by genetic testing. This case not only adds to the global understanding of ARSACS but also reports a novel pathogenic mutation in the SACS gene, broadening the known genetic spectrum of the disease.