Schanz Olivia, Bageac Devin, Braun Laura, Traynor Bryan J, Lehky Tanya J, Floeter Mary Kay
Motor Neuron Disorders Unit, National Institutes of Health, Bethesda, Maryland, USA.
Neurogenetics of Neuromuscular Disease Section, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, USA.
Muscle Nerve. 2016 Aug;54(2):264-9. doi: 10.1002/mus.25047. Epub 2016 May 25.
Patients with mutations in C9orf72 can have amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), or ALS-FTD. The goals were to establish whether cortical hyperexcitability occurs in C9orf72 patients with different clinical presentations.
Cortical thresholds and silent periods were measured in thenar muscles in 19 participants with C9orf72 expansions and 21 healthy controls using transcranial magnetic stimulation (TMS). El Escorial and Rascovsky criteria were used to diagnose ALS and FTD. Fourteen participants with C9orf72 expansions were re-tested 6 months later. Correlations with finger-tapping speed, timed peg test, the ALS functional rating scale, and Dementia Rating Scale were examined.
Most participants with C9orf72 expansions had normal or low cortical thresholds. Among them, ALS patients had the lowest thresholds and significantly shorter silent periods. Thresholds correlated with timed peg-test scores. TMS did not correlate with the Dementia Rating Scale.
TMS measures of cortical excitability may serve as noninvasive biomarkers of ALS disease activity. Muscle Nerve, 2016 Muscle Nerve 54: 264-269, 2016.
携带C9orf72基因突变的患者可能患有肌萎缩侧索硬化症（ALS）、额颞叶痴呆（FTD）或ALS-FTD。本研究旨在确定不同临床表现的C9orf72患者是否存在皮质兴奋性过高。
采用经颅磁刺激（TMS）测量19例携带C9orf72基因扩增的参与者和21名健康对照者大鱼际肌的皮质阈值和静息期。采用埃斯科里亚尔标准和拉斯科夫斯基标准诊断ALS和FTD。14例携带C9orf72基因扩增的参与者在6个月后重新接受测试。研究了与手指敲击速度、定时插钉试验、ALS功能评定量表和痴呆评定量表的相关性。
大多数携带C9orf72基因扩增的参与者皮质阈值正常或较低。其中，ALS患者的阈值最低，静息期明显较短。阈值与定时插钉试验得分相关。TMS与痴呆评定量表无关。
TMS测量的皮质兴奋性可能作为ALS疾病活动的非侵入性生物标志物。《肌肉与神经》，2016年 肌肉与神经54: 264 - 269, 2016年。
