FTD and ALS: a tale of two diseases.
FTD and ALS: a tale of two diseases.
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DOI：
10.2174/156720511795563700
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发表时间：
2011-05
影响因子：
2.1
通讯作者：
Momeni P
中科院分区：
文献类型：
--
作者：
Ferrari R;Kapogiannis D;Huey ED;Momeni P
最早的关于认知和行为症状类似额颞叶痴呆(FTD)和运动症状类似肌萎缩侧索硬化症(ALS)的障碍的报道将我们带回19世纪下半叶。在过去的150年里，特别是在过去的20年里，越来越多的证据表明，在最初被诊断为ALS的患者中可以看到FTD迹象，这意味着这两种疾病之间的临床重叠。在过去的十年中，病理学研究和基因筛查在阐明与FTD和ALS相关的病理和遗传变异性方面做出了巨大贡献。最重要的发现是TAR DNA结合蛋白[TARDBP或TDP-43]和肉瘤融合基因[FUS]及其在这些疾病中的意义。FTD和ALS是本综述的重点，旨在1.通过描述诊断标准和具体症状来总结临床特征，2.描述形态和相关病理，3.描述与疾病相关的遗传因素，4.总结临床试验和治疗方案的现状。更好地了解FTD和ALS的临床、病理和遗传学特征将有助于揭示这两种疾病之间的重叠以及导致发病和发展的基础机制。然而，这两种疾病生物学知识的进步将有助于开发新的、有望更有效的诊断和治疗方案。
The first reports of disorders that in terms of cognitive and behavioral symptoms resemble frontotemporal dementia (FTD) and in terms of motor symptoms resemble amyotrophic lateral sclerosis (ALS) bring us back to the second half of the 1800s. Over the last 150 years, and especially in the last two decades, there has been growing evidence that FTD signs can be seen in patients primarily diagnosed with ALS, implying clinical overlap among these two disorders. In the last decade pathological investigations and genetic screening have contributed tremendously in elucidating the pathology and genetic variability associated with FTD and ALS. To the most important recentdiscoveries belong TAR DNA binding protein [TARDBP or TDP-43] and the fused in sarcoma gene [FUS] and their implication in these disorders. FTD and ALS are the focus of this review which aims to 1. summarize clinical features by describing the diagnostic criteria and specific symptomatology, 2. describe the morphological aspects and related pathology, 3. describe the genetic factors associated with the diseases and 4. summarize the current status of clinical trials and treatment options. A better understanding of the clinical, pathological and genetic features characterizing FTD and ALS will shed light into overlaps among these two disorders and the underpinning mechanisms that contribute to the onset and development. Nevertheless, advancements in the knowledge of the biology of these two disorders will help developing novel and, hopefully, more effective diagnostic and treatment options.
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影响因子：
4.2
作者：
Benussi, Luisa;Binetti, Giuliano;Ghidoni, Roberta
通讯作者：
Ghidoni, Roberta
影响因子：
11
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作者：
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