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Genetic Associations of Autopsy-Confirmed Vascular Dementia Subtypes

Lookup NU author(s): Professor Raj KalariaORCiD, Professor John O'Brien, Dr Clive Ballard


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Background/Aims: Genetic risk factors have not been clearly established for vascular dementias (VaD) related to stroke and cerebrovascular disease. Methods: Samples were genotyped for APOE, MTHFR and ICAM. A beta levels and choline acetyltransferase (ChAT) activities were assayed in controls and individuals with VaD. Results: Associations were found between the APOE-epsilon 4 allele and mixed dementia, infarct/stroke dementia and subcortical ischemic vascular dementia (SIVD), and higher A beta 1-42 levels and decreased ChAT activity. MTHFR was more associated with SIVD, mixed dementia, and lower ChAT activity. Conclusions: The study demonstrates important differences in the genetic associations of VaD and begins to clarify the genetic basis of key pathological substrates. Copyright (C) 2011 S. Karger AG, Basel

Publication metadata

Author(s): Jones EL, Kalaria RN, Sharp SI, O'Brien JT, Francis PT, Ballard CG

Publication type: Article

Publication status: Published

Journal: Dementia and Geriatric Cognitive Disorders

Year: 2011

Volume: 31

Issue: 4

Pages: 247-253

Print publication date: 01/05/2011

ISSN (print): 1420-8008

ISSN (electronic): 1421-9824

Publisher: S. Karger AG


DOI: 10.1159/000327171


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Funder referenceFunder name
Alzheimer's Society (UK)
Henry Smith Charity
Medical Research Council (UK)
Newcastle upon Tyne Hospitals NHS Foundation Trust
Alzheimer's Research Trust (UK)
Dunhill Medical Trust
Newcastle NIHR Biomedical Research Centre in Ageing
112Alzheimer's Society