[Advances of genetic research on the SPG4 gene].

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.

• Authors: Hua-rong Yang, Yong Qi, Zhi Song, Hao Deng
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 27 Issue 3 Pg. 282-5 (Jun 2010) ISSN: 1003-9406 [Print] China
• PMID: 20533266 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Adenosine Triphosphatases
• Spastin
• SPAST protein, human

Topics

• Adenosine Triphosphatases (genetics)
• Animals
• Humans
• Spastic Paraplegia, Hereditary (diagnosis, genetics, pathology)
• Spastin