Case Reports
doi: 10.1212/01.wnl.0000099371.14478.73.
Identification of a SACS gene missense mutation in ARSACS
Affiliations
- PMID: 14718708
- DOI: 10.1212/01.wnl.0000099371.14478.73
Item in Clipboard
Case Reports
Identification of a SACS gene missense mutation in ARSACS
Neurology.
.
Abstract
The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).
Comment in
-
ARSACS goes global.Neurology. 2004 Jan 13;62(1):10-1. doi: 10.1212/wnl.62.1.10. Neurology. 2004. PMID: 14718687 No abstract available.
Similar articles
-
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77. Neurology. 2004. PMID: 14718707
-
A phenotype without spasticity in sacsin-related ataxia.Neurology. 2005 Jun 28;64(12):2129-31. doi: 10.1212/01.WNL.0000166031.91514.B3. Neurology. 2005. PMID: 15985586
-
An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.J Neurol Sci. 2007 Apr 15;255(1-2):87-9. doi: 10.1016/j.jns.2007.02.002. Epub 2007 Mar 8. J Neurol Sci. 2007. PMID: 17349660
-
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.Int J Mol Sci. 2022 Jan 4;23(1):552. doi: 10.3390/ijms23010552. Int J Mol Sci. 2022. PMID: 35008978 Free PMC article. Review.
-
Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.Curr Opin Chem Biol. 2022 Dec;71:102211. doi: 10.1016/j.cbpa.2022.102211. Epub 2022 Sep 17. Curr Opin Chem Biol. 2022. PMID: 36126381 Review.
Cited by
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.J Neurol. 2008 Jun;255(6):803-6. doi: 10.1007/s00415-008-0672-6. Epub 2008 May 19. J Neurol. 2008. PMID: 18484239
-
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication.Mov Disord Clin Pract. 2017 Aug 9;4(5):775-777. doi: 10.1002/mdc3.12520. eCollection 2017 Sep-Oct. Mov Disord Clin Pract. 2017. PMID: 30838287 Free PMC article. No abstract available.
-
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.Hum Mutat. 2013 Mar;34(3):525-37. doi: 10.1002/humu.22269. Hum Mutat. 2013. PMID: 23280630 Free PMC article.
-
SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala.Ann Indian Acad Neurol. 2020 May-Jun;23(3):374-376. doi: 10.4103/aian.AIAN_16_20. Epub 2020 Apr 7. Ann Indian Acad Neurol. 2020. PMID: 32606540 Free PMC article. No abstract available.
-
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.Orphanet J Rare Dis. 2022 Oct 1;17(1):369. doi: 10.1186/s13023-022-02497-1. Orphanet J Rare Dis. 2022. PMID: 36183078 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
