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- W2201478822 abstract "Down Syndrome (DS), also known as trisomy 21, is the most common chromosomal disorder in human beings, affecting about 1/700 live births. This condition is one of the most frequent causes of cognitive impairment and is considered a relevant risk factor for early onset Alzheimer's disease (AD diagnosed in subjects under the age of 65). Amyloid overproduction is observed in DS and is thought to be induced by the presence of an extra amyloid precursor protein (APP) gene located on the trisomic redundant chromosome. In this context it has been shown that by the age of forty, all persons with DS virtually develop typical AD neuropathological features [ [1] Hartley D. Blumenthal T. Carrillo M. DiPaolo G. Esralew L. Gardiner K. et al. Down syndrome and Alzheimer's disease: common pathways, common goals. Alzheimers Dement. 2015 Dec 12; 11: 700-709 Abstract Full Text Full Text PDF PubMed Scopus (161) Google Scholar ]. Deposition of amyloid beta (Aβ) and neurofibrillary tangles within central nervous system tissue, that is typically observed in AD, starts early in life of individuals affected by DS. AD and cardiac diastolic dysfunction might share some common pathological pathways [ [2] Lai F. Williams R.S. A prospective study of Alzheimer disease in Down syndrome. Arch. Neurol. 1989 Aug; 46: 849-853 Crossref PubMed Scopus (487) Google Scholar ]. Indeed, protein disarray, typical feature in AD, is thought to be involved in the pathogenesis of some of the most common cardiac diseases (heart failure, cardiomyopathies, etc.) impairing left ventricular diastolic function [ [3] Willis M.S. Patterson C. Proteotoxicity and cardiac dysfunction – Alzheimer's disease of the heart?. N. Engl. J. Med. 2013 Jan 31; 368: 455-464 Crossref PubMed Scopus (206) Google Scholar ] as well. In addition, higher rate of diastolic dysfunction was observed in both subjects with DS and in those with AD, when compared with controls [ [4] Vis J.C. de Bruin-Bon R.H. Bouma B.J. Backx A.P. Huisman S.A. Imschoot L. et al. ‘The sedentary heart’: physical inactivity is associated with cardiac atrophy in adults with an intellectual disability. Int. J. Cardiol. 2012 Jul 26; 158: 387-393 Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar ]. Therefore, aim of the present study was to investigate the association between diastolic dysfunction and cognitive performance in a sample of adults affected by DS." @default.
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- W2201478822 date "2016-01-01" @default.
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- W2201478822 title "Left ventricle diastolic function and cognitive performance in adults with Down syndrome" @default.
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