Article
Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study.
BMJ open - 11 Jan 2022
Qiu Yu-Sen, Zeng Yi-Heng, Yuan Ru-Ying, Ye Zhi-Xian, Bi Jin, Lin Xiao-Hong, Chen Yi-Jun, Wang Meng-Wen, Liu Ying, Yao Shao-Bo, Chen Yi-Kun, Jiang Jun-Yi, Lin Yi, Lin Xiang, Wang Ning, Fu Ying, Chen Wan-Jin
Abstract excerpt
INTRODUCTION: Hereditary spastic paraplegias (HSPs) are uncommon but not rare neurodegenerative diseases. More than 100 pathogenic genes and loci related to spastic paraplegia symptoms have been reported. HSPs have the same core clinical features, including progressive spasticity in the lower limbs, though HSPs are heterogeneous (eg, clinical signs, MRI features, gene mutation). The age of onset varies greatly,...
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