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- W2897875474 abstract "Early-onset Alzheimer's disease (EOAD) accounted for 1%–2% of all Alzheimer's disease (AD) cases, with large variation in the reported genetic contribution of known dementia genes. Mutations in the amyloid precursor protein (APP) gene were the first to be recognized as a cause of AD. We used ADAM GenePanel 1 of 50 gene genes to rapidly screen rare coding variability, which included different causative and risk factor genes for neurodegenerative diseases in 8 EOAD samples from Thailand. Here, a male patient with probable EOAD at age of 55 from Thailand was investigated by next generation sequencing. A novel mutation in exon 14 of APP (c.1810C>T, p.Val604Met) was found. He initially illustrated the clinical manifestations of progressive nonfluent aphasia in 2011. However, he was finally diagnosed with AD presenting logopenic aphasia in 2013. The follow-up MRI scan showed progression of hippocampal trophy in comparison with the initial image. 3D protein structure modeling revealed that p.Val604Met exchange could result significant changes in the APP protein due to the increased hydrophobicity of methionine in the helix, which could result in alter the APP functions. Further clinical and biochemical studies with genetic analyses of family members would be needed to determine whether these mutations could be involved in AD progression and differentiations." @default.
- W2897875474 created "2018-10-26" @default.
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- W2897875474 date "2018-07-01" @default.
- W2897875474 modified "2023-10-16" @default.
- W2897875474 title "P1‐165: A NOVEL APP VAL604MET MUTATION IN A THAI WITH EARLY‐ONSET ALZHEIMER DISEASE" @default.
- W2897875474 doi "https://doi.org/10.1016/j.jalz.2018.06.169" @default.
- W2897875474 hasPublicationYear "2018" @default.
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