Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. |
| |
Authors: | X Zhao D Alvarado S Rainier R Lemons P Hedera C H Weber T Tukel M Apak T Heiman-Patterson L Ming M Bui J K Fink |
| |
Institution: | Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109, USA. |
| |
Abstract: | The hereditary spastic paraplegias (HSPs; Strümpell-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. |
| |
Keywords: | |
|
|