Longitudinal Neuropsychological Study of Presymptomatic c.709-1G>A Progranulin Mutation Carriers. (29th October 2018)

• Record Type: Journal Article
• Authors: Barandiaran, Myriam; Moreno, Fermín; de Arriba, María; Indakoetxea, Begoña; Boda, Irati; Gabilondo, Alazne; Tainta, Mikel; López de Munain, Adolfo
• Is Part Of: Journal of the International Neuropsychological Society. Volume 25:Number 1(2019)
• Page Start: 39
• Page End: 47
• Publication Date: 2018-10-29
• Subjects: Asymptomatic diseases, -- Frontotemporal dementia, -- Frontotemporal lobar degeneration, -- Longitudinal studies, -- Neuropsychological tests, -- progranulin protein, -- human; Neuropsychology -- Periodicals; 616.8
• DOI: 10.1017/S1355617718000735
• Languages: English
• ISSNs: 1355-6177

Abstract

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)