a Department of Neurology , Greater Manchester Neurosciences Centre, Salford Royal Foundation Trust , Salford , UK.
b Institute of Brain, Behaviour and Mental Health, University of Manchester , Manchester , UK.
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):278-280. doi: 10.1080/21678421.2019.1582665. Epub 2019 Mar 18.
Fused in sarcoma-related amyotrophic lateral sclerosis (FUS-ALS) accounts for 4% of all familial motor neurone disease, but has a much higher incidence in juvenile ALS. We present a case of a 17-year-old British man with rapidly progressive bulbar and respiratory failure. On examination he had weak periocular muscles, neck flexion weakness, and a wasted, fasciculating and weak tongue. There were no sensory, cerebellar, or extrapyramidal features but he had frequent myoclonic jerks of the limbs. Routine bloods were normal and an MRI of the neuroaxis as well as CT chest, abdomen and pelvis were unremarkable. NCS/EMG was consistent with anterior horn cell disorder and EEG showed multiple paroxysmal generalized spike-wave discharges. DNA sequencing demonstrated that he was heterozygous for the c.1483C>T pathogenic nonsense mutation in exon 14 of the FUS gene, consistent with ALS6. This is the first reported case of FUS-ALS presenting with prominent myoclonus.
融合于肉瘤相关性肌萎缩侧索硬化症（FUS-ALS）占所有家族性运动神经元病的 4%，但在青少年 ALS 中发病率更高。我们报告了一例 17 岁的英国男性，表现为进行性球部和呼吸衰竭。检查发现他的眼周肌肉无力、颈部屈肌无力，舌肌萎缩、束颤和无力。无感觉、小脑或锥体外系特征，但四肢有频繁的肌阵挛性抽搐。常规血液检查正常，神经轴磁共振成像以及胸部、腹部和骨盆 CT 均无明显异常。神经传导速度/肌电图检查符合前角细胞疾病，脑电图显示多发性阵发性全面棘波放电。DNA 测序显示他杂合子携带 FUS 基因外显子 14 中的 c.1483C>T 致病性无义突变，符合 ALS6。这是首例报告的以明显肌阵挛为表现的 FUS-ALS 病例。
