REFERENCES
- Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 1978;5:61–69.
- Bouchard J-P. Recessive spastic ataxia of Charlevoix-Saguenay. In: Jong JMBV, editor. Hereditary Neuropathies and Spinocerebellar Atrophies. Amsterdam: Elsevier, 1991:451–459.
- Engert JC, Berube P, Mercier J, Doré C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24:120–125.
- Ouyang Y, Takiyama Y, Sakoe K, Ouyang Y, Takiyama Y, Sakoe K, Shimazaki H, Ogawa T, Nagano S, Yamamoto Y, Nakano I. Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. Neurology 2006;66:1103–1104.
- Parfitt DA, Michael GJ, Vermeulen EG, Parfitt DA, Michael GJ, Vermeulen EG, Prodromou NV, Webb TR, Gallo JM, Cheetham ME, Nicoll WS, Blatch GL, Chapple JP. The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Hum Mol Genet 2009;18:1556–1565.
- Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics 2008;9:207–214.
- Takado Y, Hara K, Shimohata T, Tokiguchi S, Onodera O, Nishizawa M. New mutation in the non-gigantic exon of SACS in Japanese siblings. Mov Disord 2007;22:748–749.
- Jindhara P, Hedges TR, Mendoza-Santiesteban CE, Plant GT. Optical coherence tomography of the retina: applications in neurology. Curr Opin Neurol 2010;23:16–23.