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Genetics of dementia
Author(s) -
Russell M. B.
Publication year - 2010
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2010.01377.x
Subject(s) - cadasil , dementia , psen1 , vascular dementia , stroke (engine) , disease , alzheimer's disease , apolipoprotein e , allele , age of onset , population , medicine , genetics , biology , presenilin , pathology , gene , mechanical engineering , environmental health , engineering
Russell MB. Genetics of dementia. Acta Neurol Scand: 2010: 122 (Suppl. 190): 58–61. © 2010 John Wiley & Sons A/S. Dementia is a syndrome and not a single disease. Approximately 0.5% of those with Alzheimer’s disease have an autosomal dominant inherited early onset Alzheimer’s disease, caused by mutations in the APP, PSEN1 or PSEN2 gene. A large population‐based twin study of late onset Alzheimer’s disease supports complex inheritance. The APOE ε4 allele is a major risk factor for late onset Alzheimer’s disease, whereas the ε2 allele has a protective effect. Two large size genome‐wide association studies from two Internationals study groups recently identified the genes CLU, PICALM and CRI to be important for late onset Alzheimer’s disease. Stroke is like dementia a syndrome and not a single disease. CADASIL is the most common autosomal dominant inherited cause of stroke and vascular dementia. CADASIL is caused by mutations in the NOTCH3 gene, which encodes a single‐pass transmembrane receptor. Stroke can cause dementia, as it is the stroke itself rather than the underlying vascular risk factors that cause the dementia.