Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

Enza Maria Valente, Francesco Brancati, Viviana Caputo, Enrico Bertini, Clarice Patrono, Danilo Costanti, Bruno Dallapiccola

Research output: Contribution to journalArticle

Abstract

Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. Seven loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have already been mapped on chromosomes 14q, 2p, 15q, 8p, 12q, 19q, and 2q. We report on an Italian family affected by ADPHSP for which we excluded linkage with the known loci and performed a genome-wide search. Linkage analysis and haplotype construction permitted the identification of a novel ADPHSP locus on the long arm of chromosome 9, designated SPG19. The phenotype was characterized by late onset (range, 36-55 years) and mild disability, with only 1 patient bound to a wheelchair after 31 years of disease. Urinary disturbances (urgency and/or incontinence) were always present, even in young patients with a short disease history.

Original languageEnglish
Pages (from-to)681-685
Number of pages5
JournalAnnals of Neurology
Volume51
Issue number6
DOIs
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Neuroscience(all)

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