ARSACS in a young Indian adult: a case report on autosomal recessive spastic ataxia presentation

<h3></h3> This case report elucidates the intricate clinical trajectory and diagnostic odyssey of a 26- year-old Indian male presenting with Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay (ARSACS). The patient‘s history with a progressive array of symptoms, including falls, balance impairments, dysarthria, and muscle cramps, exhibited heightened severity at the age of 15. Remarkably, despite the challenges imposed by these symptoms, the patient maintained a degree of independence in his daily activities. The definitive diagnosis was established through a comprehensive clinical evaluation, imaging studies, and genetic analysis, which disclosed a SACS mutation (p.Lys2931AsnfsTer22). Neurological examination brought to light bilateral lower limb spasticity, toe muscle weakness, absent ankle reflexes, and discernible cerebellar signs. Magnetic Resonance Imaging (MRI) revealed characteristic linear transverse hypointensities in the pons and superior vermis, indicative of cerebellar atrophy. Ophthalmic evaluation further fortified the diagnosis with findings of retinal nerve fibre layer thickening and foveal hypoplasia. This case underscores the intrinsic heterogeneity in the clinical presentation of ARSACS and accentuates the critical importance of a multidisciplinary approach for precision in diagnosis. The molecular validation achieved through genetic testing, particularly the identification of a SACS mutation, serves as an indispensable foundation for comprehending the observed phenotype. Recognition of ARSACS assumes paramount significance for informed counselling, effective management, and potential therapeutic interventions. Subsequent research endeavours are warranted to unravel the underlying pathophysiological mechanisms and augment our comprehension of this rare neurological condition.