Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review
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Reference58 articles.
1. Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Canad J Neurol Sci. 1978;5:61-69.
2. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
3. Illarioshkin SN, Rudenskaya GE, Ivanova-Smolenskaya IA, Markova ED, Klyushnikov SA. Nasledstvennie ataxii i paraplegii. M. 2006. (In Russ.)
4. Human Gene Mutation Database (HGMD) Professional. 2017.1. https://portal.biobase-international.com
5. Mutations in SACS cause atypical and late-onset forms of ARSACS
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1. To the question of differentiation of ataxias (analytical review);Bulletin of the Medical Institute "REAVIZ" (REHABILITATION, DOCTOR AND HEALTH);2022-04-25
2. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration;International Journal of Molecular Sciences;2022-01-04
3. Autosomal recessive spastic paraplegias types 7 and 76;Annals of Clinical and Experimental Neurology;2021-06-18
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