Very Early Onset Sporadic Alzheimer’s disease with a De Nove Mutation in the PSEN1 gene

Publication date: Available online 6 January 2017
Source:Neurobiology of Aging
Author(s): Fan Lou, Xiaoguang Luo, Ming Li, Yan Ren, Zhiyi He
We report a 22 year-onset age man diagnosed with rapidly progressing early-onset Alzheimer's disease (EOAD) with predominant extrapyramidal symptoms as the initial presenting symptoms and V391G mutation in presenilin 1 gene (PSEN1) was founded. The unaffected parents of the proband are not carriers of the mutation but have histories of extrapyramidal diseases, suggesting de novo origin of V391G mutation. The novel Val391Gly variation widens the number of PSEN1 mutations responsible for EOAD with extrapyramidal phenotype and would help to establish a functional map of presenilin 1 protein architecture.

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