Expert Opin Pharmacother. 2007 Jul;8(10):1433-9.

The genetics of hereditary spastic paraplegia and implications for drug therapy.

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University of Miami Miller School of Medicine, Miami Institute of Human Genomics, Miami, FL 33101, USA. szuchner@med.miami.edu

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.

PMID:: 17661726; [PubMed - indexed for MEDLINE]

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Neuromuscular Agents

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Cited by 5 PubMed Central articles

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. [Mol Cell Neurosci. 2011]
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Botzolakis EJ, Zhao J, Gurba KN, Macdonald RL, Hedera P. Mol Cell Neurosci. 2011 Jan; 46(1):122-35. Epub 2010 Sep 21.
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. [J Clin Invest. 2010]
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
Park SH, Zhu PP, Parker RL, Blackstone C. J Clin Invest. 2010 Apr; 120(4):1097-110.
Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism. [J Neurosci. 2008]
Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.
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