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Article

Evidence of mosaicism in SPAST variant carriers in four French families.

European journal of human genetics : EJHG - 1 Jul 2021

Angelini Chloé, Goizet Cyril, Said Samia Ait, Camu William, Depienne Christel, Heron Bénédicte, Kol Bophara, Guillaud-Bataille Marine, Pennamen Perrine, Rooryck Caroline, Scherer-Gagou Clarisse, Tissier Laurène, Stevanin Giovanni, Leguern Eric, Banneau Guillaume

Abstract excerpt

Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at onset can vary, even between patients from the same family, and incomplete penetrance is described. Somatic mosaicism is extremely rare with only three patients reported in the literature. We...

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Identifiers

PMID: 33958741
DOI: 10.1038/s41431-021-00847-4
PMCID: PMC8298572

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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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