TY  - JOUR
AU  - Tavares, Tamara Paulo
AU  - Mitchell, Derek G V
AU  - Coleman, Kristy KL
AU  - Coleman, Brenda L
AU  - Shoesmith, Christen L
AU  - Butler, Christopher R
AU  - Santana, Isabel
AU  - Danek, Adrian
AU  - Gerhard, Alexander
AU  - de Mendonca, Alexandre
AU  - Borroni, Barbara
AU  - Tartaglia, Maria Carmela
AU  - Graff, Caroline
AU  - Galimberti, Daniela
AU  - Tagliavini, Fabrizio
AU  - Moreno, Fermin
AU  - Frisoni, Giovanni
AU  - Rowe, James Benedict
AU  - Levin, Johannes
AU  - Van Swieten, John Cornelis
AU  - Otto, Markus
AU  - Synofzik, Matthis
AU  - Sanchez-Valle, Raquel
AU  - Vandenberghe, Rik
AU  - Laforce, Robert Jr
AU  - Ghidoni, Roberta
AU  - Sorbi, Sandro
AU  - Ducharme, Simon
AU  - Masellis, Mario
AU  - Rohrer, Jonathan
AU  - Finger, Elizabeth
TI  - Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration
JO  - Journal of neurology, neurosurgery, and psychiatry
VL  - 91
IS  - 9
SN  - 1468-330X
CY  - London
PB  - BMJ Publishing Group
M1  - DZNE-2020-01439
SP  - 975 - 984
PY  - 2020
AB  - 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
KW  - Adult
KW  - C9orf72 Protein: genetics
KW  - Female
KW  - Frontotemporal Dementia: diagnosis
KW  - Frontotemporal Dementia: genetics
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Prodromal Symptoms
KW  - Progranulins: genetics
KW  - tau Proteins: genetics
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC7611534
C6  - pmid:32769115
DO  - DOI:10.1136/jnnp-2020-322987
UR  - https://pub.dzne.de/record/153442
ER  -