Abstract

Background
In this study we describe the clinical, and investigations profile of 7 cases of autosomal-recessive spastic-ataxia of Charlevoix-Saguenay (ARSACS).
Methods
We performed retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed literature for reported cases of ARSACS from India.
Result
All seven patients had onset within the first-decade. As per the available data, all had walking difficulty (7/7), spastic-ataxia (7/7), classical neuroimaging findings (7/7), sensory-motor demyelinating polyneuropathy (6/6), abnormal evoked-potentials (5/5) and thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 pathogenic/likely-pathogenic unique variants (6 novel) in SACS gene. Additional 21 cases (18 families) of ARSACS that could be identified from India had similar clinical and investigational findings. The most common c.8793delA variant may have a founder effect.
Conclusion
Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.

• Keywords: ARSACS, SACS, Sacsin, ataxia, OCT, India