1、Amyloid Precursor ProteinA-Neurofibrillary TanglesA-AggregationNeuron DeathBasal Forebrain and Brainstem NucleiNeurotransmitter DeficitsNeuritic PlaquesNeuron DeathCortexDemantia SyndromeGenotypeCellular effectMutationsDown syndrome(trisomy 21)Increased APP productionwith enhanced generationof AAPP
2、mutations(varions)21q21.1-21.3Altered APP processingresultiong in increasedproduction of AChromosome 14(PS1mutation)14q24.2-24.3Increased A productionChromosome 1(PS2mutation)1q31-32Increased A productionGenetic risk factorsChromosome 19(ApoE-4)19q13.2Increase A aggregationChromosome 12(low-densitylipoprotein receptor-relatedprotein)Lipoprotein receptormediating the moleculareffects of ApoE-4Chromosome 6(HLA-A2)HLA histocompatibilityallele regulating theinflammatory responseChromosome 17Bleomycin hydrolase;implicated in APPprocessingNeurofibrillary Tangles
