AAA ATPases and hereditary spastic paraplegia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 298-301, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-287404
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Análise Mutacional de DNA
/
Paraplegia Espástica Hereditária
/
Mapeamento Cromossômico
/
Adenosina Trifosfatases
/
Idade de Início
/
Heterogeneidade Genética
/
Genética
/
Genótipo
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Artigo
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