Hereditary spastic paraplegias (HSPs) are a group of single-gene disorders characterised by degeneration of the corticospinal tract axons, leading to bilateral, symmetrical, slowly-progressive spastic paraparesis, predominantly of the lower extremities. So far, ∼ 30 different chromosomal HSP loci have been identified by genetic linkage analysis. Defects in intracellular trafficking and transport in myelination and abnormalities of mitochondrial proteins have been involved in HSP pathogenesis. At present, treatment of the HSPs is primarily directed symptomatically toward reducing muscle spasticity. Yet, recent progresses in the identification of HSP mutations are providing formidable tools to pharmacogenetic approaches of drug discovery, validation and prediction of individual response. © 2006 Informa UK Ltd.

Contino G., N.G. (2006). Hereditary spastic paraplegia: Clinical genomics and pharmacogenetic perspectives. EXPERT OPINION ON PHARMACOTHERAPY, 7(14), 1849-1856 [10.1517/14656566.7.14.1849].

Hereditary spastic paraplegia: Clinical genomics and pharmacogenetic perspectives

NOVELLI, GIUSEPPE
2006

Abstract

Hereditary spastic paraplegias (HSPs) are a group of single-gene disorders characterised by degeneration of the corticospinal tract axons, leading to bilateral, symmetrical, slowly-progressive spastic paraparesis, predominantly of the lower extremities. So far, ∼ 30 different chromosomal HSP loci have been identified by genetic linkage analysis. Defects in intracellular trafficking and transport in myelination and abnormalities of mitochondrial proteins have been involved in HSP pathogenesis. At present, treatment of the HSPs is primarily directed symptomatically toward reducing muscle spasticity. Yet, recent progresses in the identification of HSP mutations are providing formidable tools to pharmacogenetic approaches of drug discovery, validation and prediction of individual response. © 2006 Informa UK Ltd.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/03 - Genetica Medica
English
Con Impact Factor ISI
Axonal transport; Baclofen; Genetic heterogeneity; Hereditary spastic paraplegia; Linkage analysis; Pharmacogenetics; Vinca alkaloids
Contino G., N.G. (2006). Hereditary spastic paraplegia: Clinical genomics and pharmacogenetic perspectives. EXPERT OPINION ON PHARMACOTHERAPY, 7(14), 1849-1856 [10.1517/14656566.7.14.1849].
Contino, G; Novelli, G
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/30252
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