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Article

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).

Neurogenetics - 1 Apr 2009

Hewamadduma Channa, McDermott Christopher, Kirby Janine, Grierson Andrew, Panayi Maria, Dalton Ann, Rajabally Yusuuf, Shaw Pamela

Abstract excerpt

The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19034539
DOI: 10.1007/s10048-008-0163-z

Genes

REEP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A complete overview of REEP1: old and new insights on its role in hereditary spastic paraplegia and neurodegeneration.Semantic proximity Read ↗

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