%0 Journal Article
%A Tavares, Tamara Paulo
%A Mitchell, Derek G V
%A Coleman, Kristy KL
%A Coleman, Brenda L
%A Shoesmith, Christen L
%A Butler, Christopher R
%A Santana, Isabel
%A Danek, Adrian
%A Gerhard, Alexander
%A de Mendonca, Alexandre
%A Borroni, Barbara
%A Tartaglia, Maria Carmela
%A Graff, Caroline
%A Galimberti, Daniela
%A Tagliavini, Fabrizio
%A Moreno, Fermin
%A Frisoni, Giovanni
%A Rowe, James Benedict
%A Levin, Johannes
%A Van Swieten, John Cornelis
%A Otto, Markus
%A Synofzik, Matthis
%A Sanchez-Valle, Raquel
%A Vandenberghe, Rik
%A Laforce, Robert Jr
%A Ghidoni, Roberta
%A Sorbi, Sandro
%A Ducharme, Simon
%A Masellis, Mario
%A Rohrer, Jonathan
%A Finger, Elizabeth
%T Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration
%J Journal of neurology, neurosurgery, and psychiatry
%V 91
%N 9
%@ 1468-330X
%C London
%I BMJ Publishing Group
%M DZNE-2020-01439
%P 975 - 984
%D 2020
%X Objectives The clinical heterogeneity of frontotemporal dementia (FTD) complicates identification of biomarkers for clinical trials that may be sensitive during the prediagnostic stage. It is not known whether cognitive or behavioural changes during the preclinical period are predictive of genetic status or conversion to clinical FTD. The first objective was to evaluate the most frequent initial symptoms in patients with genetic FTD. The second objective was to evaluate whether preclinical mutation carriers demonstrate unique FTD-related symptoms relative to familial mutation non-carriers.Methods The current study used data from the Genetic Frontotemporal Dementia Initiative multicentre cohort study collected between 2012 and 2018. Participants included symptomatic carriers (n=185) of a pathogenic mutation in chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN) or microtubule-associated protein tau (MAPT) and their first-degree biological family members (n=588). Symptom endorsement was documented using informant and clinician-rated scales.Results The most frequently endorsed initial symptoms among symptomatic patients were apathy (23
%K Adult
%K C9orf72 Protein: genetics
%K Female
%K Frontotemporal Dementia: diagnosis
%K Frontotemporal Dementia: genetics
%K Heterozygote
%K Humans
%K Male
%K Middle Aged
%K Mutation
%K Prodromal Symptoms
%K Progranulins: genetics
%K tau Proteins: genetics
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC7611534
%$ pmid:32769115
%R 10.1136/jnnp-2020-322987
%U https://pub.dzne.de/record/153442