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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
| Content Provider | Semantic Scholar |
|---|---|
| Author | Kamada, Sayaka Okawa, Satoshi Imota, Tsuyoshi Sugawara, Masayoshi Toyoshima, Itaru |
| Copyright Year | 2008 |
| Abstract | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder first described among French Canadians in Quebec. To date, 24 mutations have been reported in the SACS gene of ARSACS patients. The authors report a clinical and genetic analysis of a Japanese family with ARSACS with novel compound heterozygous mutations in the SACS gene (N161fsX175, L802P). The phenotype is similar to that of previously reported ARSACS patients. |
| Starting Page | 803 |
| Ending Page | 806 |
| Page Count | 4 |
| File Format | PDF HTM / HTML |
| DOI | 10.1007/s00415-008-0672-6 |
| PubMed reference number | 18484239 |
| Journal | Medline |
| Volume Number | 255 |
| Alternate Webpage(s) | https://page-one.springer.com/pdf/preview/10.1007/s00415-008-0672-6 |
| Alternate Webpage(s) | https://doi.org/10.1007/s00415-008-0672-6 |
| Journal | Journal of Neurology |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |