Abstract
Introduction:
Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder of distinctive triad of ataxia, spasticity and axonal-demyelinating sensorimotor neuropathy. Owing to its eponymous name, ARSACS was first reported in the Charlevoix–Saguenay region of Quebec, but epidemiologically speaking it is far more common globally. It is the genetic implication of biallelic mutations in the Spastic Ataxia of Charlevoix-Saguenay (SACS) gene that usually manifests from childhood.
Clinical presentation:
We report a 20-year-old Omani male of consanguineous parents, with progressive frequent falls and ataxia with delayed motor milestones, found to have homozygous variant mutation of SACS 13q12.12, suggestive of autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS). Magnetic resonance imaging (MRI) of the head and cervical spine showed bilateral hypointense stripes in pons (tigroid appearance), atrophy of the superior cerebellar vermis, and midbody atrophy of corpus callosum and hyperintense thalamic rim signs. Electromyography (EMG) and nerve conduction studies (NCS) show sensory-motor polyneuropathy. Blood workups for vitamin B12, tocopherols (vitamin E), and peripheral smear were unremarkable. Management encompassed a multidisciplinary approach with tizanidine, Botulinum toxin B injection, and extensive physical and balance rehabilitation.
Conclusions:
ARSACS is reported across the globe representing the second comments form of hereditary ataxia. As per the literature, there have been no reported cases in the Middle East, making this the first reported case of Omani origin in the Middle East.