期刊
NATURE REVIEWS NEUROLOGY
卷 10, 期 11, 页码 661-670出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrneurol.2014.184
关键词
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资金
- Fund for Scientific Research Flanders FWO [11Y9515N]
- European Research Council (under the European Commission Seventh Framework Programme [FP7]) [340429, 259867]
- Fund for Scientific Research Flanders (FWO) [G.0983.14N, G.0996.14N]
- University of Leuven [GOA/11/014]
- Interuniversity Attraction Poles Programme [P7/16]
- ALS association [039CYK]
- Packard Center for ALS research
- Thierry Latran Foundation
- ALS Therapy Alliance
- University of Leuven (Fund Hart voor ALS)
Classic textbook neurology teaches that amyotrophic lateral sclerosis (ALS) is a degenerative disease that selectively affects upper and lower motor neurons and is fatal 3-5 years after onset-a description which suggests that the clinical presentation of ALS is very homogenous. However, clinical and postmortem observations, as well as genetic studies, demonstrate that there is considerable variability in the phenotypic expression of ALS. Here, we review the phenotypic variability of ALS and how it is reflected in familial and sporadic ALS, in the degree of upper and lower motor neuron involvement, in motor and extramotor involvement, and in the spectrum of ALS and frontotemporal dementia. Furthermore, we discuss some unusual clinical characteristics regarding presentation, age at onset and disease progression. Finally, we address the importance of this variability for understanding the pathogenesis of ALS and for the development of therapeutic strategies.
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