Frontotemporal Dementia: From Mendelian Genetics Towards Genome Wide Association Studies
作者： Raffaele Ferrari , John Hardy , Parastoo Momeni , None
DOI: 10.1007/S12031-011-9635-Y
关键词: Genetic association 、 Biology 、 Tau protein 、 Valosin-containing protein 、 Progressive supranuclear palsy 、 Genome-wide association study 、 Genetics 、 Dementia 、 Frontotemporal lobar degeneration 、 Frontotemporal dementia
摘要: Frontotemporal lobar degeneration is the most common cause of dementia non-Alzheimer's type worldwide. It manifests, clinically, with behavioural changes and language impairment pathologically associated tau- or ubiquitin-positive inclusions detected in neurons glial cells frontal temporal lobes brain. Genetic variations microtubule-associated protein tau progranulin genes explain almost 50% familial cases, whilst TAR DNA-binding protein, charged multivescicular body 2B, valosin-containing fused sarcoma contribute to <5% cases. The rapidly developing investigative techniques available geneticists such as genome-wide association studies, whole-exome sequencing and, soon, whole-genome promise unravelling genetic architecture this complex disease future, development more sensitive, accurate effective diagnostic treatment measures.
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