Case Reports
doi: 10.1212/01.WNL.0000166031.91514.B3.
A phenotype without spasticity in sacsin-related ataxia
Affiliations
- PMID: 15985586
- DOI: 10.1212/01.WNL.0000166031.91514.B3
Item in Clipboard
Case Reports
A phenotype without spasticity in sacsin-related ataxia
Neurology.
.
Abstract
The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.
Similar articles
-
Novel SACS mutation in a Belgian family with sacsin-related ataxia.J Neurol Sci. 2008 Jan 15;264(1-2):73-6. doi: 10.1016/j.jns.2007.07.022. Epub 2007 Aug 22. J Neurol Sci. 2008. PMID: 17716690
-
Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.Muscle Nerve. 2008 Jan;37(1):107-10. doi: 10.1002/mus.20878. Muscle Nerve. 2008. PMID: 17683082
-
Novel compound heterozygous mutations in sacsin-related ataxia.J Neurol Sci. 2005 Dec 15;239(1):101-4. doi: 10.1016/j.jns.2005.08.005. Epub 2005 Sep 29. J Neurol Sci. 2005. PMID: 16198375
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.Parkinsonism Relat Disord. 2011 Jul;17(6):418-22. doi: 10.1016/j.parkreldis.2011.03.005. Epub 2011 Mar 30. Parkinsonism Relat Disord. 2011. PMID: 21450511 Review.
-
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.
Cited by
-
Sacsinopathies: sacsin-related ataxia.Cerebellum. 2007;6(4):353-9. doi: 10.1080/14734220701230466. Epub 2007 Feb 28. Cerebellum. 2007. PMID: 17853117
-
Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.Acta Neurol Belg. 2024 Apr;124(2):475-484. doi: 10.1007/s13760-023-02400-0. Epub 2023 Oct 29. Acta Neurol Belg. 2024. PMID: 37898963
-
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 without Spasticity.Intern Med. 2021 Dec 15;60(24):3963-3967. doi: 10.2169/internalmedicine.7401-21. Epub 2021 Jun 12. Intern Med. 2021. PMID: 34121011 Free PMC article.
-
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.J Mol Neurosci. 2020 Jan;70(1):131-141. doi: 10.1007/s12031-019-01410-z. Epub 2019 Nov 7. J Mol Neurosci. 2020. PMID: 31701440 Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases
