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- W2897788149 abstract "Mutations in PSEN1, PSEN2 and APP are common cause of early onset Alzheimer's disease (AD). We have experienced a case of familial early onset Alzheimer's disease in a 41-year-old Korean woman who showed cognitive impairment, memory loss and spatial disorientation. Neuroimaging studies and laboratory findings were consistent with AD. PCR and standard sequencing was performed in APP, PSEN1 and PSEN2 genes. In silico predictions were done by PolyPhen and SIFT online tools. 3D modeling was performed by RaptorX and Discovery Studio tools. A known mutation PSEN1 mutation, T116I was found in exon 5, and associated with positive family history of AD. The same found in the patient's younger sister who showed mild cognitive impairment symptoms. In silico data revealed that mutation may disturb significantly the conservative HL-I loop of presenilin-1. PSEN1 T116I is found for the first time in Korean patients with early onset AD and might result in aberrations in the PSEN1 conformation. T116I was found in European familial and de novo EOAD cases, and was verified as a causative mutation of AD." @default.
- W2897788149 created "2018-10-26" @default.
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- W2897788149 date "2018-07-01" @default.
- W2897788149 modified "2023-10-16" @default.
- W2897788149 title "P2‐109: A KNOWN PSEN1 MUTATION, T116I, ASSOCIATED WITH EARLY ONSET ALZHEIMER'S DISEASE IN A KOREAN FAMILY" @default.
- W2897788149 doi "https://doi.org/10.1016/j.jalz.2018.06.795" @default.
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