Article

Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease

Department of Neurology, Washington University School of Medicine, 660 S, Euclid, Campus Box 8111, St Louis, MO 63110, USA. .
Alzheimer's Research and Therapy (Impact Factor: 3.5). 01/2011; 3(1):1. DOI: 10.1186/alzrt59
Source: PubMed

ABSTRACT Autosomal-dominant Alzheimer's disease has provided significant understanding of the pathophysiology of Alzheimer's disease. The present review summarizes clinical, pathological, imaging, biochemical, and molecular studies of autosomal-dominant Alzheimer's disease, highlighting the similarities and differences between the dominantly inherited form of Alzheimer's disease and the more common sporadic form of Alzheimer's disease. Current developments in autosomal-dominant Alzheimer's disease are presented, including the international Dominantly Inherited Alzheimer Network and this network's initiative for clinical trials. Clinical trials in autosomal-dominant Alzheimer's disease may test the amyloid hypothesis, determine the timing of treatment, and lead the way to Alzheimer's disease prevention.

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Available from: Bart De Strooper, Aug 15, 2015
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    • "Decoding AD gene mutations is important because not only does it provide a more sophisticated understanding of the pathobiology in EO-FAD, but might assist in the identification of at-risk patients for early treatment interventions in the future [11] [12]. In this report, we will present the clinical, neuropsychological, imaging and molecular data of two family members with a novel PSEN1 missense mutation. "
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    • "According to the model proposed by Qi-Takahara et al. (Sato et al. 2003; Qi-Takahara et al. 2005), the c-secretase cleavage of the b-CTF is also sequential; firstly the e-cleavage generates Ab48 or Ab49 and the intracellular fragment of APP (AICD). Ab48 and Ab49 are then cleaved by consecutive c-secretase cleavages every three or four amino acids in two production lines: Ab49-Ab46-Ab43-Ab40 and Ab48-Ab45-Ab42-Ab38. Autosomal-dominant AD (ADAD) is a genetic disorder that accounts for less than 1% of all AD cases (Bateman et al. 2011). ADAD has been associated with mutations in three different genes: the APP, PSEN1 or PSEN2 genes. "
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