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Article

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

Journal of the neurological sciences - 15 Jan 2010

Magariello Angela, Muglia Maria, Patitucci Alessandra, Ungaro Carmine, Mazzei Rosalucia, Gabriele Anna Lia, Sprovieri Teresa, Citrigno Luigi, Conforti Francesca Luisa, Liguori Maria, Gambardella Antonio, Bono Francesco, Piccoli Tommaso, Patti Francesco, Zappia Mario, Mancuso Michelangelo, Iemolo Franco, Quattrone Aldo

Abstract excerpt

Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases. The phenotype associated with HSP due to mutations in the SPG4 gene tends to be pure. There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. A cohort of...

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PMID: 19875132
DOI: 10.1016/j.jns.2009.09.025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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