The genetics of hereditary spastic paraplegia and implications for drug therapy
- 30 July 2007
- journal article
- review article
- Published by Informa Healthcare in Expert Opinion on Pharmacotherapy
- Vol. 8 (10) , 1433-1439
- https://doi.org/10.1517/14656566.8.10.1433
Abstract
Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. A total of 30 chromosomal loci have been identified for autosomal dominant, recessive and X-linked HSP. The underlying genes for 15 of these loci have been described. The molecular dissection of the cellular functions of the related gene products has already greatly advanced our understanding of the most critical pathways involved in HSP. It is hoped that in the foreseeable future this knowledge will begin to translate into novel pharmacological approaches for this devastating disease.Keywords
This publication has 47 references indexed in Scilit:
- Emerging pathways for hereditary axonopathiesJournal of Molecular Medicine, 2005
- Atlastin1 Mutations Are Frequent in Young-Onset Autosomal Dominant Spastic ParaplegiaArchives of Neurology, 2004
- Molecular genetics of distal hereditary motor neuropathiesHuman Molecular Genetics, 2004
- Advances in the hereditary spastic paraplegiasExperimental Neurology, 2003
- Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin GeneAmerican Journal of Human Genetics, 2002
- Hereditary motor neuropathies and motor neuron diseases: which is which.Amyotrophic Lateral Sclerosis, 2002
- A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2Nature Genetics, 2001
- Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of ItalyZeitschrift für Neurologie, 1992
- HEREDITARY ATAXIAS AND PARAPLEGIAS IN CANTABRIA, SPAINBrain, 1991
- CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIASThe Lancet, 1983