Loading...
Please wait, while we are loading the content...
Similar Documents
Hereditary spastic paraplegia: up to date
| Content Provider | Semantic Scholar |
|---|---|
| Author | Takiyama, Yoshihisa |
| Copyright Year | 2014 |
| Abstract | Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterized by progressive spasticity and weakness of the lower limbs. HSP genetic loci are designated SPG1-72 in order of their discovery. In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%). We have identified novel mutations in the C12orf65 gene and the LYST gene in several Japanese families with autosomal recessive HSP. JASPAC will facilitate gene discovery and mechanistic understanding of HSP. The future challenge will be the establishment of treatment of HSP. |
| Starting Page | 286 |
| Ending Page | 296 |
| Page Count | 11 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://www.neurology-jp.org/Journal/public_pdf/054121009.pdf |
| Alternate Webpage(s) | https://www.jstage.jst.go.jp/article/clinicalneurol/54/12/54_1009/_pdf |
| PubMed reference number | 25519960v1 |
| Volume Number | 54 |
| Issue Number | 12 |
| Journal | Rinsho shinkeigaku = Clinical neurology |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | ATL1 gene Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) Autosomal dominant inheritance Autosomal recessive inheritance Candidate Gene Identification Genetic Heterogeneity Hereditary Diseases KIAA0196 wt Allele L1CAM wt Allele LYST gene Limb structure Muscle Spasticity Mutation Neurodegenerative Disorders REEP1 gene SPAST gene Spastic Paraplegia, Hereditary Spastic paraplegia 10, autosomal dominant Tropical Spastic Paraparesis |
| Content Type | Text |
| Resource Type | Article |
