期刊
CURRENT ALZHEIMER RESEARCH
卷 8, 期 3, 页码 273-294出版社
BENTHAM SCIENCE PUBL LTD
DOI: 10.2174/156720511795563700
关键词
ALS; FTD; FUS; motor disease; proteinopathies; TAU; TDP-43; ubiquitin inclusions
资金
- Intramural NIH HHS [ZIA AG000975, Z99 AG999999, ZIA AG000975-02] Funding Source: Medline
- NIA NIH HHS [R99 AG999999] Funding Source: Medline
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. TAR DNA binding protein [TARDBP or TDP-43] and the fused in sarcoma gene [FUS] and their implication in these disorders belong to the most important recent discoveries. 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 their onset and development. 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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