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Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
| Content Provider | Semantic Scholar |
|---|---|
| Author | Palmio, Johanna Kärppä, Mikko Baumann, Peter Penttilä, Sini Tellervo Moilanen, Jukka S. Udd, Bjarne A. |
| Copyright Year | 2016 |
| Abstract | Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease. |
| Starting Page | 1151 |
| Ending Page | 1156 |
| Page Count | 6 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://helda.helsinki.fi//bitstream/handle/10138/254910/Palmio_et_al_2016_Clinical_Case_Reports.pdf?sequence=1 |
| Alternate Webpage(s) | https://tampub.uta.fi/bitstream/handle/10024/100419/novel_compound_heterozygous_mutation_2016.pdf?sequence=1 |
| PubMed reference number | 5134137 |
| Volume Number | 4 |
| Journal | Clinical case reports |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Abnormal pyramidal signs Autosomal recessive inheritance Cerebellar Ataxia Friedreich Ataxia Leigh syndrome , French Canadian type Mutation PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE Peripheral Neuropathy Pyramidal Tracts Rare Diseases SACS gene Spastic Ataxia Tropical Spastic Paraparesis nervous system disorder |
| Content Type | Text |
| Resource Type | Article |
