Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
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- 29 October 2001
- journal article
- letter
- Published by Springer Nature in Nature Genetics
- Vol. 29 (3) , 326-331
- https://doi.org/10.1038/ng758
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, 2, 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 ∼ 42%)1, followed by that linked to the SPG3A locus on chromosome 14q11–q21 (in ∼ 9%)1. Only SPG4 has been identified4 as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes4. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals.Keywords
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