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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: BMC 2026-05-01
Schriftenreihe:Acta Neuropathologica Communications
Schlagworte:
Sandhoff disease
GM2 gangliosidosis
Motor neuron
CRISPR/Cas9
Lipidomics
iPSCs
Online-Zugang:https://doi.org/10.1186/s40478-026-02308-9
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