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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Spastic Paraplegia, Hereditary
/
Adenosine Triphosphatases
/
Diagnosis
/
Spastin
/
Genetics
Type of study:
Diagnostic study
/
Screening study
Limits:
Animals
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2010
Type:
Article
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