title: Impaired long-term potentiation-like cortical plasticity in presymptomatic genetic frontotemporal dementia.
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.
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Benussi
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
authors.forename: Maura
authors.initials: M
authors.lastname: Cosseddu
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Filareto
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Dell'Era
authors.affiliation: III Laboratory of Analysis, Spedali Civili Hospital, Brescia, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Archetti
authors.affiliation: Neurology Unit, Valle Camonica Hospital, Brescia, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Sofia Cotelli
authors.affiliation: Casa di Cura San Francesco, Bergamo, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Micheli
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. bborroni@inwind.it.
authors.forename: Barbara
authors.initials: B
authors.lastname: Borroni
mesh_terms: D000328:Adult; D000368:Aged; D015415:Biomarkers; D000073885:C9orf72 Protein; D002540:Cerebral Cortex / Q000503:physiopathology*; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics / Q000503:physiopathology*; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D017774:Long-Term Potentiation / Q000502:physiology*; D008297:Male; D008875:Middle Aged; D062706:Prodromal Symptoms; D000077153:Progranulins; D011506:Proteins / Q000235:genetics; D016037:Single-Blind Method; D050781:Transcranial Magnetic Stimulation / Q000379:methods*
chemical_list: D015415:Biomarkers; D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins; D011506:Proteins