Cognitive Disorders Unit, Department of Neurology, Hospital Universitario Donostia, San Sebastian, Gipuzkoa, Spain.
Neurobiol Aging. 2013 May;34(5):1462-8. doi: 10.1016/j.neurobiolaging.2012.11.005. Epub 2012 Dec 4.
Studies in asymptomatic granulin gene (GRN) mutation carriers are essential to improve our understanding of the pattern and timing of early morphologic brain changes in frontotemporal lobar degeneration. The main objectives of this study were to assess the effect of age in cortical thickness changes (CTh) in preclinical GRN mutation carriers and to study the relationship of CTh with cognitive performance in GRN mutation carriers. We calculated CTh maps in 13 asymptomatic carriers of the c.709-1G>A GRN mutation and 13 age- and sex-matched healthy subjects. Asymptomatic GRN mutation carriers presented different patterns of age-related cortical thinning in the right superior temporal and middle temporal gyri and the banks of the superior temporal sulcus bilaterally when compared with controls. Cortical thickness was correlated with neuropsychological test scores: Trail Making Tests A and B, and the Boston Naming Test. Distinctive age-related cortical thinning in asymptomatic GRN mutation carriers in lateral temporal cortices suggests an early and disease-specific effect in these areas.
无症状颗粒蛋白基因（GRN）突变携带者的研究对于提高我们对额颞叶变性早期形态脑变化模式和时间的理解至关重要。本研究的主要目的是评估年龄对临床前 GRN 突变携带者皮质厚度变化（CTh）的影响，并研究 CTh 与 GRN 突变携带者认知表现的关系。我们在 13 名无症状 c.709-1G>A GRN 突变携带者和 13 名年龄和性别匹配的健康受试者中计算了 CTh 图谱。与对照组相比，无症状 GRN 突变携带者在右侧上颞叶和中颞叶以及双侧上颞叶回的优势部呈现出不同的与年龄相关的皮质变薄模式。皮质厚度与神经心理学测试分数相关：连线测试 A 和 B，以及波士顿命名测试。无症状 GRN 突变携带者在外侧颞叶皮质中出现的独特的与年龄相关的皮质变薄提示这些区域存在早期和特定于疾病的影响。
