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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-26939

Lippa, C F; Rosso, A L; Stutzbach, L D; Neumann, M; Lee, V M Y; Trojanowski, J Q (2009). Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome. Archives of Neurology, 66(12):1483-1488.

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Abstract

OBJECTIVE: To assess the transactive response DNA-binding protein 43 (TDP-43) burden in familial forms of Alzheimer disease (FAD) and Down syndrome (DS) to determine whether TDP-43 inclusions are also present. DESIGN: Using standard immunohistochemical techniques, we examined brain tissue samples from 42 subjects with FAD and 14 with DS. RESULTS: We found pathological TDP-43 aggregates in 14.0% of participants (6 of 42 and 2 of 14 participants with FAD and DS, respectively). In both FAD and DS, TDP-43 immunoreactivity did not colocalize with neurofibrillary tangles. Occasionally participants with FAD or DS had TDP-43-positive neuropil threads or dots. Overall, the amygdala was most commonly affected, followed by the hippocampus, with no TDP-43 pathology in neocortical regions. A similar distribution of TDP-43 inclusions is seen in sporadic Alzheimer disease, but it differs from that seen in amyotrophic lateral sclerosis and frontotemporal dementia. CONCLUSIONS: Transactive response DNA-binding protein 43 pathology occurs in FAD and DS, similar to that observed in sporadic Alzheimer disease. Thus, pathological TDP-43 may contribute the cognitive impairments in familial and sporadic forms of Alzheimer disease.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
DDC:570 Life sciences; biology
610 Medicine & health
Language:English
Date:2009
Deposited On:10 Jan 2010 13:04
Last Modified:23 Nov 2012 16:21
Publisher:American Medical Association
ISSN:0003-9942
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:10.1001/archneurol.2009.277
PubMed ID:20008652

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