Title: The phenotypic variability of amyotrophic lateral sclerosis
Authors: Swinnen, Bart ×
Robberecht, Wim #
Issue Date: Nov-2014
Publisher: Nature Publishing Group
Series Title: Nature Reviews. Neurology vol:10 issue:11 pages:661-670
Article number: 10.1038/nrneurol.2014.184
Abstract: 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.
ISSN: 1759-4758
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Neurobiology
× corresponding author
# (joint) last author

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