Frontotemporal dementia.
Frontotemporal dementia.
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DOI：
10.1016/b978-0-444-64076-5.00027-2
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发表时间：
2018-01-01
影响因子：
--
通讯作者：
Miller, Bruce L
中科院分区：
文献类型：
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作者：
Deleon, Jessica;Miller, Bruce L
额颞叶痴呆（FTD）是一种神经退行性疾病，其特征是行为、个性和语言的进行性变化，涉及大脑的额叶和颞叶区域。约40%的FTD病例有阳性家族史，其中约10%的病例以常染色体显性遗传模式遗传。这些基因缺陷具有不同的临床表型。随着FTD的诊断变得更加容易识别，记住这些基因突变将变得越来越重要。在本章中，我们回顾了已知与FTD相关的基因。我们讨论蛋白质的功能，突变频率，临床表型，影像学特征，和病理与这些基因。
Frontotemporal dementia (FTD) is a neurodegenerative disorder characterized by progressive changes in behavior, personality, and language with involvement of the frontal and temporal regions of the brain. About 40% of FTD cases have a positive family history, and about 10% of these cases are inherited in an autosomal-dominant pattern. These gene defects present with distinct clinical phenotypes. As the diagnosis of FTD becomes more recognizable, it will become increasingly important to keep these gene mutations in mind. In this chapter, we review the genes with known associations to FTD. We discuss protein functions, mutation frequencies, clinical phenotypes, imaging characteristics, and pathology associated with these genes.