Article
Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.
Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jul 2012
Lan Min-Yu, Fu Ser-Chen, Chang Yung-Yee, Wu-Chou Yah-Huei, Lai Szu-Chia, Chen Rou-Shyan, Lu Chin-Song
Abstract excerpt
BACKGROUND/PURPOSE: Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders. Defects in the SPG4 and SPG3A genes are the two leading causes of HSPs with autosomal dominant inheritance (AD-HSPs). The purpose of this study was to investigate the clinical features and associated genetic mutations in Taiwanese families with AD-HSP. METHODS: Four kindreds with...
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