Myriam Barandiaran1, Fermín Moreno1, María de Arriba1, Begoña Indakoetxea1, Irati Boda2, Alazne Gabilondo3, Mikel Tainta3, Adolfo López de Munain1. 1. 1Cognitive Disorders Unit,Department of Neurology,Donostia University Hospital,Paseo Dr Begiristain sn,CP 20014,San Sebastian,Gipuzkoa,Spain. 2. 4Department of Computer Science,Multimedia and Telecommunications,Universitat Oberta de Catalunya,Barcelona,Spain. 3. 2Center for Networked Biomedical Research on Neurodegenerative Disease (CIBERNED),area 6,Carlos III Health Institute,Spain.
Abstract
OBJECTIVE: The assessment of individuals from families affected by familial frontotemporal dementia (FTD) allows the evaluation of preclinical or pre-diagnosis disease markers. The current work aims to investigate the existence of a cognitive phase in GRN mutation carriers before overt clinical symptoms begin. METHODS: We performed a longitudinal neuropsychological analysis (three assessments in 4 years) in a group of presymptomatic c.709-1G>A progranulin (GRN) (n=15) mutation carriers and non-carrier relatives (n=25) from seven FTD families. RESULTS: GRN mutation carriers showed subtle decline over the longitudinal follow-up in several different domains (namely, attention, facial affect recognition, decision-making, language, and memory). The differences between groups were most marked in the facial affect recognition test, with improvement in the non-carrier group and decline in the GRN mutation carrier group, with very large effect sizes. CONCLUSIONS: Facial affect recognition may decline before clinical diagnosis and makes the adapted version of the Picture of Facial Affect a potential candidate for early detection of GRN-associated FTD. (JINS, 2019, 25, 39-47).
OBJECTIVE: The assessment of individuals from families affected by familial frontotemporal dementia (FTD) allows the evaluation of preclinical or pre-diagnosis disease markers. The current work aims to investigate the existence of a cognitive phase in GRN mutation carriers before overt clinical symptoms begin. METHODS: We performed a longitudinal neuropsychological analysis (three assessments in 4 years) in a group of presymptomatic c.709-1G>A progranulin (GRN) (n=15) mutation carriers and non-carrier relatives (n=25) from seven FTD families. RESULTS:GRN mutation carriers showed subtle decline over the longitudinal follow-up in several different domains (namely, attention, facial affect recognition, decision-making, language, and memory). The differences between groups were most marked in the facial affect recognition test, with improvement in the non-carrier group and decline in the GRN mutation carrier group, with very large effect sizes. CONCLUSIONS: Facial affect recognition may decline before clinical diagnosis and makes the adapted version of the Picture of Facial Affect a potential candidate for early detection of GRN-associated FTD. (JINS, 2019, 25, 39-47).
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Authors: Jackie M Poos; Katrina M Moore; Jennifer Nicholas; Lucy L Russell; Georgia Peakman; Rhian S Convery; Lize C Jiskoot; Emma van der Ende; Esther van den Berg; Janne M Papma; Harro Seelaar; Yolande A L Pijnenburg; Fermin Moreno; Raquel Sanchez-Valle; Barbara Borroni; Robert Laforce; Mario Masellis; Carmela Tartaglia; Caroline Graff; Daniela Galimberti; James B Rowe; Elizabeth Finger; Matthis Synofzik; Rik Vandenberghe; Alexandre de Mendonça; Pietro Tiraboschi; Isabel Santana; Simon Ducharme; Chris Butler; Alexander Gerhard; Johannes Levin; Adrian Danek; Markus Otto; Isabel Le Ber; Florence Pasquier; John C van Swieten; Jonathan D Rohrer Journal: Alzheimers Res Ther Date: 2022-01-19 Impact factor: 6.982