Aug 2026
A de novo FUS frameshift variant (p.Gly501Valfs*30) presenting with tremor and prominent extrapyramidal features in young-onset motor neuron disease: a case report.
A 32-year-old Chinese man who presented with bilateral hand tremor as the initial symptom, followed by progressive dysarthria, bradykinesia, and multi-segment upper and lower motor neuron involvement is reported, expanding the phenotypic spectrum of FUS-associated motor neuron disease.
Dong-Chao Shen, Jian-Feng Ding, Feifei Zhai et al.
· Amyotrophic Lateral Sclerosi... · 0 citations