Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
III Laboratory of Analysis, Spedali Civili Hospital, Brescia, Italy.
Ann Neurol. 2016 Sep;80(3):472-6. doi: 10.1002/ana.24731. Epub 2016 Aug 10.
Neurophysiological biomarkers were assessed using a transcranial magnetic stimulation multiparadigm approach in 13 presymptomatic (n = 13 Granulin) and 14 symptomatic (n = 11 Granulin, n = 3 C9orf72) subjects with a pathogenic mutation for frontotemporal dementia (FTD). Intracortical facilitation and long-term potentiation-like plasticity were impaired in presymptomatic carriers, compared to healthy controls, more than 15 years before expected symptom onset. In symptomatic carriers, a decrease in short-interval intracortical inhibition, compared to presymptomatic carriers, was found. In conclusion, these biomarkers could provide the footprints of specific physiopathological processes in the development of this disease and possibly support the diagnosis of autosomal-dominant FTD. Ann Neurol 2016;80:472-476.
使用经颅磁刺激多范式方法评估了 13 名无症状前（n=13 Granulin）和 14 名有症状（n=11 Granulin，n=3 C9orf72）携带致病变异体的额颞叶痴呆（FTD）患者的神经生理生物标志物。与健康对照组相比，无症状携带者在预期症状出现前 15 多年就表现出皮质内易化和长时程增强样可塑性受损。在有症状的携带者中，与无症状携带者相比，发现短程皮质内抑制减少。总之，这些生物标志物可以为这种疾病发展过程中的特定生理病理过程提供依据，并可能支持常染色体显性 FTD 的诊断。神经病学年鉴 2016；80：472-476。
