Aporte a la rutina de la trinchera asistencial donde los conocimientos se funden con las demandas de los pacientes, sus necesidades y las esperanzas de permanecer en la gracia de la SALUD.
domingo, 25 de julio de 2010
Genetics of dementia. [Acta Neurol Scand Suppl. 2010] - PubMed result
Acta Neurol Scand Suppl. 2010;(190):58-61.
Genetics of dementia.
Russell MB.
Head and Neck Research Group, Research Centre, Akershus University Hospital, Oslo, Norway. m.b.russell@medisin.uio.no
Abstract
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 epsilon4 allele is a major risk factor for late onset Alzheimer's disease, whereas the epsilon2 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.
PMID: 20586737 [PubMed - in process]
Genetics of dementia. [Acta Neurol Scand Suppl. 2010] - PubMed result
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