Department of Neurology, Sapporo Medical University, School of Medicine, Japan.
Intern Med. 2021 Jun 15;60(12):1949-1953. doi: 10.2169/internalmedicine.6168-20. Epub 2021 Feb 1.
Amyotrophic lateral sclerosis (ALS) due to a fused in sarcoma (FUS) P525L mutation is characterized by a rapidly progressive course. Multifocal motor neuropathy (MMN) may resemble ALS in early stage and is associated with anti-ganglioside antibodies. A 38-year-old woman was admitted to our hospital because of progressive muscle weakness in the right limbs. She had mild mental retardation and minor deformities. Initially, we suspected MMN given the asymmetric muscle weakness and detection of anti-ganglioside antibodies. However, physical and electrophysiological tests did not support MMN, instead suggesting ALS. We confirmed a heterozygous P525L mutation and finally diagnosed this case as ALS due to an FUS mutation.
肌萎缩侧索硬化症（ALS）因融合肉瘤（FUS）P525L 突变引起，其特征为快速进展病程。多灶性运动神经病（MMN）在早期可能与 ALS 相似，并与神经节苷脂抗体相关。一名 38 岁女性因右肢进行性肌无力就诊于我院。她存在轻度智力障碍和轻微畸形。最初，由于不对称性肌无力和神经节苷脂抗体的检测，我们怀疑为 MMN。然而，体格检查和电生理检查不支持 MMN，反而提示 ALS。我们发现了一个杂合的 P525L 突变，最终诊断该病例为 FUS 突变所致的 ALS。
