Department of Neurology, Hospital Donostia, San Sebastián, Gipuzkoa, Spain.
J Int Neuropsychol Soc. 2012 Nov;18(6):1086-90. doi: 10.1017/S1355617712000823.
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.
PGRN 基因突变已被确定为额颞叶痴呆（FTD）的病因之一。然而，对于这些突变的无症状携带者的神经心理学能力知之甚少。本研究旨在评估无症状 c.709-1G>A PGRN 突变携带者的认知功能。我们假设在出现临床上显著的 FTD 症状之前，可能存在较差的神经心理学表现。32 名携带 c.709-1G>A 突变的 FTD 患者的一级亲属作为研究参与者，包括 13 名 PGRN 突变携带者（A-PGRN+）和 19 名非携带者（PGRN-）。进行了神经心理学测试。我们发现，A-PGRN+参与者在注意力测试（Trail-Making Test Part A）、思维灵活性测试（Trail-Making Test Part B）和语言测试（波士顿命名测试）上的得分明显低于 PGRN-个体。无症状 PGRN 突变携带者在这些测试中的较差表现可能反映了在出现临床上显著的 FTD 症状之前的前驱期。
