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Article

Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression.

Journal of the neurological sciences - 15 Oct 2017

Schneider-Gold Christiane, Dekomien Gabriele, Regensburger Martin, Schneider Ruth, Trampe Nadine, Krogias Christos, Lukas Carsten, Bellenberg Barbara

Abstract excerpt

BACKGROUND: A pair of monozygotic 22-year-old twins with complicated hereditary spastic paraplegia caused by a novel SPG11 mutation is described. METHODS: Genetic testing and thorough clinical examination, magnetic resonance imaging (MRI) and MR-spectroscopy were performed. RESULTS: The twins were compound heterozygous for a known frameshift as well as a novel splice site mutation in the SPG11 gene. Clinically...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28991695
DOI: 10.1016/j.jns.2017.09.005

Genes

SPG11

Provenance

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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