Advances of genetic research on the SPG4 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 282-285, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-348996
ABSTRACT
The hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain familial spasmodic paraplegia, is a highlighted clinical and genetic heterogeneity disorder with the prevalence of (2-9.6)/100,000. This disorder is characterized by progressive, usually severe spasticity and pyramidal weakness, predominantly in the lower limbs. Inheritance of this disease has been reported to be autosomal dominant (AD), autosomal recessive (AR), or X-linked recessive (XR), with the AD forms of HSP (ADHSP) being the most common type. At least 40 HSP gene loci have been localized and 19 genes have been identified. Forty percent of HSP cases are caused by mutations in the spastin (spastic paraplegia-4, SPG4) gene. Genetic diagnosis, the gold standard for diagnosis of the disease, may contribute to early diagnosis, presymptomatic diagnosis and prenatal diagnosis. The study of animal models plays an important role in revealing the molecular pathological mechanism of HSP. The known genetic research advances of the SPG4 gene are reviewed in this article.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Paraplegia Espástica Hereditária
/
Adenosina Trifosfatases
/
Diagnóstico
/
Espastina
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Animais
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2010
Tipo de documento:
Artigo
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