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Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with <i>SOD1</i> mutations
Annals of Neurology · 2007 · Vol. 61(5) · pp. 427–434
Ian R. Mackenzie✉(University of British Columbia)Eileen H. Bigio(Northwestern University)Paul G. Ince(University of Sheffield)Felix Geser(Alzheimer’s Disease Neuroimaging Initiative)Manuela Neumann(Ludwig-Maximilians-Universität München)Nigel J. Cairns(Washington University in St. Louis)Linda K. Kwong(University of Pennsylvania)Mark S. Forman(University of Pennsylvania)John Ravits(Virginia Mason Medical Center)Heather Stewart(University of British Columbia)Andrew Eisen(University of British Columbia)Leo McClusky(University of Pennsylvania)Hans A. Kretzschmar(Ludwig-Maximilians-Universität München)Camelia Maria Monoranu(University of Würzburg)J. Robin Highley(University of Sheffield)Janine Kirby(University of Sheffield)Teepu Siddique(Northwestern University)Pamela J. Shaw(University of Sheffield)Virginia M‐Y. Lee(Alzheimer’s Disease Neuroimaging Initiative)John Q. Trojanowski(Alzheimer’s Disease Neuroimaging Initiative)
Abstract
These findings implicate pathological TDP-43 in the pathogenesis of sporadic ALS. In contrast, the absence of pathological TDP-43 in cases with SOD1 mutations implies that motor neuron degeneration in these cases may result from a different mechanism, and that cases with SOD1 mutations may not be the familial counterpart of sporadic ALS.
Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders ResearchParkinson's Disease Mechanisms and TreatmentsAmyotrophic lateral sclerosisSOD1PathologicalPathologyPathogenesisMutationMedicineMotor neuronDementiaBiology
MeSH terms
Superoxide Dismutase-1Amyotrophic Lateral SclerosisDNA-Binding ProteinsHumansImmunohistochemistryMedulla OblongataMotor CortexMutationSpinal CordSuperoxide DismutaseUbiquitin
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References
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Biochemical and Biophysical Research Communications · 2006 · 2,755 citations
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