Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Published

Journal Article

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most common HSP gene. We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.

Full Text

Duke Authors

Cited Authors

  • Züchner, S; Wang, G; Tran-Viet, K-N; Nance, MA; Gaskell, PC; Vance, JM; Ashley-Koch, AE; Pericak-Vance, MA

Published Date

  • August 2006

Published In

Volume / Issue

  • 79 / 2

Start / End Page

  • 365 - 369

PubMed ID

  • 16826527

Pubmed Central ID

  • 16826527

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/505361

Language

  • eng

Conference Location

  • United States