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CASE REPORT
Year : 2016  |  Volume : 4  |  Issue : 1  |  Page : 122-124

SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India


Department of Neurology, Government TD Medical College, Alappuzha, Kerala, India

Correspondence Address:
M Suraj Menon
Department of Neurology, Government TD Medical College, Alappuzha
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2321-4848.183359

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late infantile onset spastic ataxia and other neurological features. Initially described in the Charlevoix-Saguenay region of Quebec, Canada, it is being increasingly reported from many other countries. Here, we present the case of a 20-year-old male from South India, who presented with progressive ataxia, spasticity, and peripheral neuropathy with imaging features and genetic testing suggestive of SACS gene-related ARSACS. The phenotypic variability from other cases and occurrence in a geographically distinct region is stressed upon to alert the clinicians to consider ARSACS in progressive ataxias.


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