Early-Onset Spastic Ataxia Due to a Novel Mutation of the SACS Gene – A Case Report from North India with a Review of Indian Literature
Author:
Affiliation:
1. Department of Neurology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Publisher
Medknow
Subject
Neurology (clinical)
Reference12 articles.
1. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF;Engert;Nat Genet,2000
2. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of C harlevoix–S aguenay;Pilliod;Ann Neurol,2015
3. Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS): Case report of a novel nonsense mutation in the SACS gene;Agarwal;Ann Indian Acad Neurol,2020
4. ARSACS as a worldwide disease: Novel SACS mutations identified in a consanguineous family from the remote tribal Jammu and Kashmir region in India;Kuchay;Cerebellum,2019
5. Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families;Faruq;Clin Genet,2014
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