期刊
BIOMARKERS IN MEDICINE
卷 4, 期 1, 页码 99-112出版社
FUTURE MEDICINE LTD
DOI: 10.2217/BMM.09.92
关键词
amyloid precursor protein; dominantly inherited Alzheimer's disease; early-onset dementia; familial Alzheimer's disease; presenilins
资金
- Department of Health's NIHR Biomedical Research Centres
- Medical Research Council (UK)
- DeNDRON
- NIHR clinical research network for dementia and neurodegenerative diseases
- MRC [G0900421] Funding Source: UKRI
- Medical Research Council [G0900421] Funding Source: researchfish
Alzheimer's disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it. A minority of cases occur at a particularly young age and are caused by autosomal dominantly inherited genetic mutations. Although rare, familial AD provides unique opportunities to gain insights into the cascade of pathological events and how they relate to clinical manifestations. The phenotype of familial AD is highly variable and, although it shares many clinical features with sporadic AD, it also possesses important differences. Exploring the genetic and pathological basis of this phenotypic heterogeneity can illuminate aspects of the underlying disease mechanism, and is likely to inform our understanding and treatment of AD in the future.
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