Article
Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.
Archives of neurology - 1 Jan 2004
Tang Beisha, Zhao Guohua, Xia Kun, Pan Qian, Luo Wei, Shen Lu, Long Zhigao, Dai Heping, Zi Xiaohong, Jiang Hong
Abstract excerpt
BACKGROUND: Hereditary spastic paraplegia is a group of genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs. The most common form of hereditary spastic paraplegia is caused by mutations in the spastin gene (SPG4), which encodes spastin, an adenosine triphosphatase associated with various cellular activities protein. OBJECTIVE: To investigate the Chinese...
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