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Article

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

Journal of the neurological sciences - 15 Apr 2017

Rubegni Anna, Battisti Carla, Tessa Alessandra, Cerase Alfonso, Doccini Stefano, Malandrini Alessandro, Santorelli Filippo M, Federico Antonio

Abstract excerpt

Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. Neurological symptoms are occasionally observed in female carriers of these mutations. Two...

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Source

Identifiers

PMID: 28320130
DOI: 10.1016/j.jns.2017.01.069

Genes

PLP1

Variants

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.PMID 28320130Read ↗

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Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.Semantic proximity Read ↗

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Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.Semantic proximity Read ↗

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.Semantic proximity Read ↗

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

POLG1 variations presenting as multiple sclerosis.Semantic proximity Read ↗

Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.Semantic proximity Read ↗

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