AAA ATPases and hereditary spastic paraplegia.
10.3760/cma.j.issn.1003-9406.2009.03.013
- Author:
Yin-guang WANG
1
;
Lu SHEN
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
- Publication Type:Journal Article
- MeSH:
Adenosine Triphosphatases;
genetics;
Age of Onset;
Chromosome Mapping;
DNA Mutational Analysis;
Genetic Heterogeneity;
Genotype;
Humans;
Phenotype;
Spastic Paraplegia, Hereditary;
genetics
- From:
Chinese Journal of Medical Genetics
2009;26(3):298-301
- CountryChina
- Language:Chinese
-
Abstract:
The hereditary spastic paraplegias (HSPs or SPGs) are clinically and genetically highly heterogeneous neurodegenerative disorders mainly characterized by progressive spasticity and weakness in the lower limbs. The inheritance mode includes autosomal dominant(AD-HSP), autosomal recessive(AR-HSP) and X-linked recessive(XR-HSP). Thirty-five loci have been mapped with 17 disease-associated genes identified. SPG4 and SPG7 are the common subtypes in the AD-HSP and AR-HSP, respectively. The authors briefly review the function of spastin (SPG4) and paraplegin (SPG7), both of which belong to AAA ATPases family, and the recent progress of the study on the pathogenesis of HSPs.
