Article
Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models.
Acta neuropathologica communications - 5 May 2026
Tang Yao, Shan Didi, Wang Hongxu, Ji Xinbo, Jiao Yichang, Li Jianing, Zhan Zexin, Liu Shuangwu, Sun Xiaohan, Lin Pengfei, Xu Jingwen, Wang Dongdong, Sun Xiulian, Yan Chuanzhu, Zhao Yuying, Liu Fuchen
Abstract excerpt
Sandhoff disease (SD) is a subtype of GM2 gangliosidosis caused by pathogenic variants in Hexosaminidase B (HEXB). It most frequently presents in infancy or early childhood, whereas adult-onset disease is rare and remains incompletely characterized. Here, we describe an adult-onset case of SD presenting as motor neuron disease and provide clinical and mechanistic insights using patient-derived models. The patient...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.