Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

ABSTRACT:

Background

Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). Recently, mutations in the REEP1 gene were identified to cause autosomal dominant HSP type SPG31. The purpose of this study was to determine the prevalence of REEP1 mutations in a cohort of 162 unrelated Caucasian index patients with 'pure' HSP and a positive family history (at least two persons per family presented symptoms).

Methods

162 patients were screened for mutations by, both, DHPLC and direct sequencing.

Results

Ten mutations were identified in the REEP1 gene, these included eight novel mutations comprising small insertions/deletions causing frame shifts and subsequently premature s

SUBMITTER: Schlang KJ 

PROVIDER: S-EPMC2492855 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature