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Article

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

Brain : a journal of neurology - 1 May 2018

Newton Timothy, Allison Rachel, Edgar James R, Lumb Jennifer H, Rodger Catherine E, Manna Paul T, Rizo Tania, Kohl Zacharias, Nygren Anders O H, Arning Larissa, Schüle Rebecca, Depienne Christel, Goldberg Lisa, Frahm Christiane, Stevanin Giovanni, Durr Alexandra, Schöls Ludger, Winner Beate, Beetz Christian, Reid Evan

Abstract excerpt

Many genetic neurological disorders exhibit variable expression within affected families, often exemplified by variations in disease age at onset. Epistatic effects (i.e. effects of modifier genes on the disease gene) may underlie this variation, but the mechanistic basis for such epistatic interactions is rarely understood. Here we report a novel epistatic interaction between SPAST and the contiguous gene DPY30,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29481671
DOI: 10.1093/brain/awy034
PMCID: PMC5917785

Genes

SPAST

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.

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