Early Neuropsychological Characteristics of Progranulin Mutation Carriers

Bradley J. Hallam; Claudia Jacova; Ging-Yuek R. Hsiung; Dana Wittenberg; Pheth Sengdy; Phoenix Bouchard-Kerr; Penny Slack; Rosa Rademakers; Matthew Baker; Tiffany W. Chow; Brian Levine; Howard H. Feldman; Ian R. Mackenzie

doi:10.1017/S1355617714000551

Early Neuropsychological Characteristics of Progranulin Mutation Carriers

Published online by Cambridge University Press: 04 July 2014

Bradley J. Hallam ,

Claudia Jacova ,

Ging-Yuek R. Hsiung ,

Dana Wittenberg ,

Pheth Sengdy ,

Phoenix Bouchard-Kerr ,

Matthew Baker and

Bradley J. Hallam*: Affiliation:
Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
Claudia Jacova: Affiliation:
Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
Ging-Yuek R. Hsiung: Affiliation:
Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
Dana Wittenberg: Affiliation:
Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
Pheth Sengdy: Affiliation:
Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
Phoenix Bouchard-Kerr: Affiliation:
Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
Penny Slack: Affiliation:
Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
Rosa Rademakers: Affiliation:
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida
Matthew Baker: Affiliation:
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida
Tiffany W. Chow: Affiliation:
Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada
Brian Levine: Affiliation:
Rotman Research Institute at Baycrest Health Sciences, Toronto, Ontario, Canada
Howard H. Feldman: Affiliation:
Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
Ian R. Mackenzie: Affiliation:
Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
*: Correspondence and reprint requests to: Bradley J. Hallam, GF Strong Rehabilitation Centre, 4255 Laurel Street, Vancouver, British Columbia V5Z 2G9, Canada. E-mail: [email protected]

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Abstract

Mutations in the progranulin gene (GRN) are a common cause of familial frontotemporal dementia. We used a comprehensive neuropsychological battery to investigate whether early cognitive changes could be detected in GRN mutation carriers before dementia onset. Twenty-four at-risk members from six families with known GRN mutations underwent detailed neuropsychological testing. Group differences were investigated by domains of attention, language, visuospatial function, verbal memory, non-verbal memory, working memory and executive function. There was a trend for mutation carriers (n=8) to perform more poorly than non-carriers (n=16) across neuropsychological domains, with significant between group differences for visuospatial function (p<.04; d=0.92) and working memory function (p<.02; d=1.10). Measurable cognitive differences exist before the development of frontotemporal dementia in subjects with GRN mutations. The neuropsychological profile of mutation carriers suggests early asymmetric, right hemisphere brain dysfunction that is consistent with recent functional imaging data from our research group and the broader literature. (JINS, 2014, 20, 1–10)

Keywords

Ubiquitin positive frontotemporal dementia Granulin FTLD with TDP-43 Pathology Hereditary neurodegenerative disease Cognitive symptom Neuropsychology

Type: Research Articles
Information: Journal of the International Neuropsychological Society , Volume 20 , Issue 7 , August 2014 , pp. 694 - 703

DOI: https://doi.org/10.1017/S1355617714000551 [Opens in a new window]
Copyright: Copyright © The International Neuropsychological Society 2014

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Early Neuropsychological Characteristics of Progranulin Mutation Carriers

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