Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

Zhao X., Alvarado D., Rainier S., Lemons R., Hedera P., Weber C., ...Daha Fazla

NATURE GENETICS, cilt.29, sa.3, ss.326-331, 2001 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 3
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1038/ng758
  • Dergi Adı: NATURE GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.326-331
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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 -42%)(1), followed by that linked to the SPG3A locus on chromosome 14q11-q21 (in similar to9%)(1). Only SPG4 has been identified(4) as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes(4). Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals.