Article
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Molecular neurodegeneration - 6 Jul 2018
Dong En-Lin, Wang Chong, Wu Shuang, Lu Ying-Qian, Lin Xiao-Hong, Su Hui-Zhen, Zhao Miao, He Jin, Ma Li-Xiang, Wang Ning, Chen Wan-Jin, Lin Xiang
Abstract excerpt
BACKGROUND: Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts. To date, more than 78 HSP loci have been mapped to cause HSP. However, both the clinical and mutational spectrum of Chinese patients with HSP remained unclear. In this study, we aim to perform a comprehensive analysis of clinical phenotypes and genetic distributions in...
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