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Updated: Feb 3, 2026

Author Spotlight: Expression and Purification of Human Solute Carrier Transporters Using Codon-Optimized Genes
Published on: September 29, 2023
Longitudinal Neuropsychological Study of Presymptomatic c.709-1G>A Progranulin Mutation Carriers
Myriam Barandiaran1, Fermín Moreno1, María de Arriba1
11Cognitive Disorders Unit,Department of Neurology,Donostia University Hospital,Paseo Dr Begiristain sn,CP 20014,San Sebastian,Gipuzkoa,Spain.
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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