AUTHOR=Li Rui , Liu Xuan , Ke Chenming , Zeng Fanli , Zeng Qingyi , Xu Xiaowei , Fan Xiaoqin , Zhang Ying , Hou Qinghua TITLE=ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family JOURNAL=Frontiers in Neurology VOLUME=15 YEAR=2024 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1365787 DOI=10.3389/fneur.2024.1365787 ISSN=1664-2295 ABSTRACT=
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease prominently characterized by slowly progressive lower limb weakness and spasticity. The significant genotypic and phenotypic heterogeneity of this disease makes its accurate diagnosis challenging. In this study, we identified the NM_001168272: c.2714A > G (chr3.hg19: g.4716912A > G, N905S) variant in the