伴有 MAPT 和 GRN 突变的家族性额颞叶变性的临床和神经影像学特征。
Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations.
机构信息
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
出版信息
Adv Exp Med Biol. 2021;1281:77-92. doi: 10.1007/978-3-030-51140-1_6.
Numerous kindreds with familial frontotemporal lobar degeneration have been linked to mutations in microtubule-associated protein tau (MAPT) or progranulin (GRN) genes. While there are many similarities in the clinical manifestations and associated neuroimaging findings, there are also distinct differences. In this review, we compare and contrast the demographic/inheritance characteristics, histopathology, pathophysiology, clinical aspects, and key neuroimaging findings between those with MAPT and GRN mutations.
许多家族性额颞叶痴呆与微管相关蛋白 tau（MAPT）或颗粒蛋白前体（GRN）基因突变有关。虽然在临床表现和相关神经影像学发现方面有许多相似之处，但也存在明显的差异。在这篇综述中，我们比较和对比了 MAPT 和 GRN 突变患者的人口统计学/遗传特征、组织病理学、病理生理学、临床方面和关键神经影像学发现。
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