Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models

Abstract 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...

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Autors principals:	Yao Tang, Didi Shan, Hongxu Wang, Xinbo Ji, Yichang Jiao, Jianing Li, Zexin Zhan, Shuangwu Liu, Xiaohan Sun, Pengfei Lin, Jingwen Xu, Dongdong Wang, Xiulian Sun, Chuanzhu Yan, Yuying Zhao, Fuchen Liu
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2026-05-01
Col·lecció:	Acta Neuropathologica Communications
Matèries:	Sandhoff disease GM2 gangliosidosis Motor neuron CRISPR/Cas9 Lipidomics iPSCs
Accés en línia:	https://doi.org/10.1186/s40478-026-02308-9
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