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Impaired long‐term potentiation–like cortical plasticity in presymptomatic genetic frontotemporal dementia
Authors:Alberto Benussi MD  Maura Cosseddu MSc  Ilaria Filareto MD  Valentina Dell'Era MD  Silvana Archetti MD  Maria Sofia Cotelli MD  Anna Micheli MD  Alessandro Padovani MD  PhD  Barbara Borroni MD
Affiliation:1. Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy;2. III Laboratory of Analysis, Spedali Civili Hospital, Brescia, Italy;3. Neurology Unit, Valle Camonica Hospital, Brescia, Italy;4. Casa di Cura San Francesco, Bergamo, Italy
Abstract: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
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