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Article

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

BMC medical genetics - 21 Jul 2008

Schlang Katharina J, Arning Larissa, Epplen Joerg T, Stemmler Susanne

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18644145
DOI: 10.1186/1471-2350-9-71
PMCID: PMC2492855

Genes

REEP1

Provenance

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Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).PMID 18644145Read ↗

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