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Article

A new paraplegin mutation in a patient with primary progressive multiple sclerosis.

Multiple sclerosis and related disorders - 1 Sept 2020

Bellinvia Angelo, Pastò Luisa, Niccolai Claudia, Tessa Alessandra, Carrai Riccardo, Martinelli Cristiana, Moretti Marco, Amato Maria Pia, Santorelli Filippo Maria, Sorbi Sandro, Matà Sabrina

Abstract excerpt

Primary progressive multiple sclerosis (PPMS) presents with clinical signs of slowly progressive long tract dysfunction that can overlap with neurodegenerative disorders, such as hereditary spastic paraplegia (HSP). Herein, we present two siblings in whom we have identified a novel mutation in the paraplegin (SPG7) gene. The proband, a 49-year-old woman, presented with a five-year history of progressive spastic...

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Identifiers

PMID: 32570181
DOI: 10.1016/j.msard.2020.102302

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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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