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Article

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

European journal of human genetics : EJHG - 1 Dec 2007

Mitne-Neto Miguel, Kok Fernando, Beetz Christian, Pessoa André, Bueno Clarissa, Graciani Zodja, Martyn Marcilia, Monteiro Carlos B M, Mitne Guilherme, Hubert Paulo, Nygren Anders O H, Valadares Marcos, Cerqueira Antonia M P, Starling Alessandra, Deufel Thomas, Zatz Mayana

Abstract excerpt

SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP). SPG4 HSP is characterized by large inter- and intrafamilial variability in age at onset (AAO) and disease severity. The broad spectrum of SPG4 mutations has recently been further extended by the...

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PMID: 17895902
DOI: 10.1038/sj.ejhg.5201924

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17895902-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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