title: Neuropsychological features of asymptomatic c.709-1G>A progranulin mutation carriers.
abstract: Mutations in the progranulin (PGRN) gene have been identified as a cause of frontotemporal dementia (FTD). However, little is known about the neuropsychological abilities of asymptomatic carriers of these mutations. The aim of the study was to assess cognitive functioning in asymptomatic c.709-1G>A PGRN mutation carriers. We hypothesized that poorer neuropsychological performance could be present before the development of clinically significant FTD symptoms. Thirty-two asymptomatic first-degree relatives of FTD patients carrying the c.709-1G>A mutation served as study participants, including 13 PGRN mutation carriers (A-PGRN+) and 19 non-carriers (PGRN-). A neuropsychological battery was administered. We found that the A-PGRN+ participants obtained significantly poorer scores than PGRN- individuals on tests of attention (Trail-Making Test Part A), mental flexibility (Trail-Making Test Part B), and language (Boston Naming Test). Poorer performance on these tests in asymptomatic PGRN mutation carriers may reflect a prodromal phase preceding the onset of clinically significant symptoms of FTD.
authors.affiliation: Department of Neurology, Hospital Donostia, San Sebastián, Gipuzkoa, Spain.
authors.forename: Myriam
authors.initials: M
authors.lastname: Barandiaran
authors.forename: Ainara
authors.initials: A
authors.lastname: Estanga
authors.forename: Fermín
authors.initials: F
authors.lastname: Moreno
authors.forename: Begoña
authors.initials: B
authors.lastname: Indakoetxea
authors.forename: Ainhoa
authors.initials: A
authors.lastname: Alzualde
authors.forename: Nekane
authors.initials: N
authors.lastname: Balluerka
authors.forename: José Félix
authors.initials: JF
authors.lastname: Martí Massó
authors.forename: Adolfo
authors.initials: A
authors.lastname: López de Munain
mesh_terms: D000328:Adult; D000368:Aged; D001288:Attention / Q000502:physiology; D003072:Cognition Disorders / Q000209:etiology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D056344:Executive Function / Q000502:physiology; D005260:Female; D057180:Frontotemporal Dementia / Q000150:complications* / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D000077153:Progranulins; D012189:Retrospective Studies
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins