Early Neuropsychological Characteristics of Progranulin Mutation Carriers. (4th July 2014)

• Record Type: Journal Article
• Authors: Hallam, Bradley J.; Jacova, Claudia; Hsiung, Ging-Yuek R.; Wittenberg, Dana; Sengdy, Pheth; Bouchard-Kerr, Phoenix; Slack, Penny; Rademakers, Rosa; Baker, Matthew; Chow, Tiffany W.; Levine, Brian; Feldman, Howard H.; Mackenzie, Ian R.
• Is Part Of: Journal of the International Neuropsychological Society. Volume 20:Number 7(2014:Jul.)
• Page Start: 694
• Page End: 703
• Publication Date: 2014-07-04
• Subjects: Neuropsychology -- Periodicals; 616.8
• DOI: 10.1017/S1355617714000551
• Languages: English
• ISSNs: 1355-6177

Abstract

<abstract abstract-type="normal"> <title>Abstract</title> <p>Mutations in the progranulin gene (<italic>GRN</italic>) are a common cause of familial frontotemporal dementia. We used a comprehensive neuropsychological battery to investigate whether early cognitive changes could be detected in <italic>GRN</italic> mutation carriers before dementia onset. Twenty-four at-risk members from six families with known <italic>GRN</italic> 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 (<italic>n</italic>=8) to perform more poorly than non-carriers (<italic>n</italic>=16) across neuropsychological domains, with significant between group differences for visuospatial function (<italic>p</italic>&lt;.04; <italic>d</italic>=0.92) and working memory function (<italic>p</italic>&lt;.02; <italic>d</italic>=1.10). Measurable cognitive differences exist before the development of frontotemporal dementia in subjects with <italic>GRN</italic> 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. (<italic>JINS</italic>, 2014, <italic>20</italic>, 1–10)</p> </abstract>