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Article

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.

Gene - 1 Jan 2014

Noetzli Leila, Sanz Pablo G, Brodsky Gary L, Hinckley Jesse D, Giugni Juan C, Giannaula Rolando J, Gonzalez-Alegre Pedro, Di Paola Jorge

Abstract excerpt

Hereditary spastic paraplegia (HSP) type 2 is a proteolipid protein (PLP1)-related genetic disorder that is characterized by dysmyelination of the central nervous system resulting primarily in limb spasticity, cognitive impairment, nystagmus, and spastic urinary bladder of varying severity. Previously reported PLP1 mutations include duplications, point mutations, or whole gene deletions with a continuum of...

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Source

Identifiers

PMID: 24103481
DOI: 10.1016/j.gene.2013.09.076

Genes

PLP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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