| First Author | Zhao X | Year | 2001 |
| Journal | Nat Genet | Volume | 29 |
| Issue | 3 | Pages | 326-31 |
| PubMed ID | 11685207 | Mgi Jnum | J:72410 |
| Mgi Id | MGI:2152640 | Doi | 10.1038/ng758 |
| Citation | Zhao XP, et al. (2001) Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29(3):326-31 |
| abstractText | The hereditary spastic paraplegias (HSPs; Strumpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1-3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequent of which is that linked to the SPG4 locus on chromosome 2p22 (found in approximately 42%), followed by that linked to the SPG3A locus on chromosome 14q11-q21 (in approximately 9%). Only SPG4 has been identified as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals. |
