Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
SACS (gene)
Introduction
Spastic ataxia of Charlevoix-Saguenay (sacsin), also known as SACS, is a human gene.[1]
Further reading
Further reading
- Nagase T, Ishikawa K, Suyama M; et al. (1999). “Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro”. DNA Res. 5 (5): 277–86. PMID 9872452.
- Engert JC, Doré C, Mercier J; et al. (2000). “Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11”. Genomics. 62 (2): 156–64. doi:10.1006/geno.1999.6003. PMID 10610707.
- Engert JC, Bérubé P, Mercier J; et al. (2000). “ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF”. Nat. Genet. 24 (2): 120–5. doi:10.1038/72769. PMID 10655055.
- Mercier J, Prévost C, Engert JC; et al. (2002). “Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay”. Genet. Test. 5 (3): 255–9. doi:10.1089/10906570152742326. PMID 11788093.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Criscuolo C, Banfi S, Orio M; et al. (2004). “A novel mutation in SACS gene in a family from southern Italy”. Neurology. 62 (1): 100–2. PMID 14718706.
- Grieco GS, Malandrini A, Comanducci G; et al. (2004). “Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type”. Neurology. 62 (1): 103–6. PMID 14718707.
- Ogawa T, Takiyama Y, Sakoe K; et al. (2004). “Identification of a SACS gene missense mutation in ARSACS”. Neurology. 62 (1): 107–9. PMID 14718708.
- Dunham A, Matthews LH, Burton J; et al. (2004). “The DNA sequence and analysis of human chromosome 13”. Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMID 15057823.
- Richter AM, Ozgul RK, Poisson VC, Topaloglu H (2005). “Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey”. Neurogenetics. 5 (3): 165–70. doi:10.1007/s10048-004-0179-y. PMID 15156359.
- Shimazaki H, Takiyama Y, Sakoe K; et al. (2006). “A phenotype without spasticity in sacsin-related ataxia”. Neurology. 64 (12): 2129–31. doi:10.1212/01.WNL.0000166031.91514.B3. PMID 15985586.
- Yamamoto Y, Hiraoka K, Araki M; et al. (2006). “Novel compound heterozygous mutations in sacsin-related ataxia”. J. Neurol. Sci. 239 (1): 101–4. doi:10.1016/j.jns.2005.08.005. PMID 16198375.
- Ouyang Y, Takiyama Y, Sakoe K; et al. (2006). “Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon”. Neurology. 66 (7): 1103–4. doi:10.1212/01.wnl.0000204300.94261.ea. PMID 16606928.
- Takado Y, Hara K, Shimohata T; et al. (2007). “New mutation in the non-gigantic exon of SACS in Japanese siblings”. Mov. Disord. 22 (5): 748–9. doi:10.1002/mds.21365. PMID 17290461.