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Article

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.

Parkinsonism & related disorders - 1 Jan 2018

Kamada Masaki, Kawarai Toshitaka, Miyamoto Ryosuke, Kawakita Rie, Tojima Yuki, Montecchiani Celeste, D'Onofrio Laura, Caltagirone Carlo, Orlacchio Antonio, Kaji Ryuji

Abstract excerpt

Mutations in REEP1 have been identified in three types of neurological disorders, autosomal dominant form of Hereditary Spastic Paraplegia type 31 (SPG31), autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B), and autosomal recessive form of congenital axonal neuropathy and diaphragmatic palsy. Previous studies demonstrated different molecular pathogenesis in SPG31, including loss-of-function,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29107646
DOI: 10.1016/j.parkreldis.2017.10.012

Genes

REEP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.PMID 29107646Read ↗

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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.Semantic proximity Read ↗

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Clinical and genetic study of a novel mutation in the REEP1 gene.Semantic proximity Read ↗

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

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

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

Erratum: Mutation Analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic ParaplegiaSemantic proximity Read ↗

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