Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family.

doi:10.1007/s10072-024-07500-0

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Article

Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2024

Trinchillo Assunta, Valente Valeria, Esposito Marcello, Migliaccio Miriana, Iovino Aniello, Picciocchi Michele, Cuomo Nunzia, Caccavale Carmela, Nocerino Cristofaro, De Rosa Laura, Salvatore Elena, Pierantoni Giovanna Maria, Menchise Valeria, Paladino Simona, Criscuolo Chiara

Abstract excerpt

BACKGROUND: SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 (ERLIN2) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) mutations use to cause pure SPG18. AIM: To define the variegate clinical spectrum of the SPG18 and to evaluate a dominant negative effect of erlin2 (encoded by...

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PMID: 38607533
DOI: 10.1007/s10072-024-07500-0
PMCID: PMC11306645

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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.

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