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Longitudinal Neuropsychological Study of Presymptomatic c.709-1G>A Progranulin Mutation Carriers

Published online by Cambridge University Press:  29 October 2018

Myriam Barandiaran ,
Fermín Moreno ,
María de Arriba ,
Begoña Indakoetxea ,
Irati Boda ,
Alazne Gabilondo ,
Mikel Tainta  and
Adolfo López de Munain
Myriam Barandiaran
Affiliation:
Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain Center for Networked Biomedical Research on Neurodegenerative Disease (CIBERNED), area 6, Carlos III Health Institute, Spain Neuroscience Area, Biodonostia Health Research Institute, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain
Fermín Moreno*
Affiliation:
Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain Center for Networked Biomedical Research on Neurodegenerative Disease (CIBERNED), area 6, Carlos III Health Institute, Spain Neuroscience Area, Biodonostia Health Research Institute, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain
María de Arriba
Affiliation:
Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain Center for Networked Biomedical Research on Neurodegenerative Disease (CIBERNED), area 6, Carlos III Health Institute, Spain Neuroscience Area, Biodonostia Health Research Institute, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain
Begoña Indakoetxea
Affiliation:
Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain Center for Networked Biomedical Research on Neurodegenerative Disease (CIBERNED), area 6, Carlos III Health Institute, Spain Neuroscience Area, Biodonostia Health Research Institute, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain
Irati Boda
Affiliation:
Department of Computer Science, Multimedia and Telecommunications, Universitat Oberta de Catalunya, Barcelona, Spain
Alazne Gabilondo
Affiliation:
Center for Networked Biomedical Research on Neurodegenerative Disease (CIBERNED), area 6, Carlos III Health Institute, Spain Neuroscience Area, Biodonostia Health Research Institute, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain Department of Neurology, Hospital de Bidasoa, Irun, Spain
Mikel Tainta
Affiliation:
Center for Networked Biomedical Research on Neurodegenerative Disease (CIBERNED), area 6, Carlos III Health Institute, Spain Neuroscience Area, Biodonostia Health Research Institute, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain CITA Alzheimer, San Sebastian, Spain
Adolfo López de Munain
Affiliation:
Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain Center for Networked Biomedical Research on Neurodegenerative Disease (CIBERNED), area 6, Carlos III Health Institute, Spain Neuroscience Area, Biodonostia Health Research Institute, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain
*
Correspondence and reprint requests to: Fermin Moreno, Department of Neurology, Hospital Universitario Donostia, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain. E-mail: [email protected]
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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)

Keywords

Asymptomatic diseasesFrontotemporal dementiaFrontotemporal lobar degenerationLongitudinal studiesNeuropsychological testsprogranulin proteinhuman
Type
Regular Research
Information
Journal of the International Neuropsychological Society , Volume 25 , Issue 1 , January 2019 , pp. 39 - 47
Copyright
Copyright © The International Neuropsychological Society 2018 

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Footnotes

*

These authors contributed equally to this work.

References

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