Yu-Sen Qiu, Yi-Heng Zeng, Ru-Ying Yuan, Zhi-Xian Ye, Jin Bi, Xiao-Hong Lin, Yi-Jun Chen, Meng-Wen Wang, Ying Liu, Shao-Bo Yao, Yi-Kun Chen, Jun-Yi Jiang, Yi Lin, Xiang Lin, Ning Wang, Ying Fu, Wan-Jin Chen
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, from infant to adulthood. In addition, the slow and variable rates of disease progression in patients with HSP represent a substantial challenge for informative assessment of therapeutic efficacy...
January 11, 2022: BMJ Open