Ontology highlight
ABSTRACT:
SUBMITTER: Schlang KJ
PROVIDER: S-EPMC2492855 | biostudies-literature | 2008
REPOSITORIES: biostudies-literature
Schlang Katharina J KJ Arning Larissa L Epplen Joerg T JT Stemmler Susanne S
BMC medical genetics 20080721
<h4>Background</h4>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 pres ...[more]