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Article

Mental deficiency in three families with SPG4 spastic paraplegia.

European journal of human genetics : EJHG - 1 Jan 2008

Ribaï Pascale, Depienne Christel, Fedirko Estelle, Jothy Anne-Catherine, Viveweger Caterine, Hahn-Barma Valérie, Brice Alexis, Durr Alexandra

Abstract excerpt

Mutations and deletions in the SPG4 gene are responsible for up to 40% of autosomal dominant hereditary spastic paraplegia (HSP). Patients have pyramidal signs in the lower limbs and some present additional features including cognitive impairment such as executive dysfunction or subcortical demen...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17957230
DOI: 10.1038/sj.ejhg.5201922

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17957230-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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