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dc.contributor.authorVo Van Giauen_US
dc.contributor.authorVorapun Senanarongen_US
dc.contributor.authorEva Bagyinszkyen_US
dc.contributor.authorChanin Limwongseen_US
dc.contributor.authorSeong Soo A. Anen_US
dc.contributor.authorSang Yun Kimen_US
dc.contributor.otherSeoul National University Bundang Hospitalen_US
dc.contributor.otherGachon Universityen_US
dc.contributor.otherFaculty of Medicine, Siriraj Hospital, Mahidol Universityen_US
dc.identifier.citationNeuropsychiatric Disease and Treatment. Vol.14, (2018), 3015-3023en_US
dc.description.abstract© 2018 Giau et al. Introduction: Early-onset Alzheimer’s disease (AD) accounts for than less 1% of all AD cases, with large variation in the reported genetic contributions of known dementia genes. Mutations in the amyloid precursor protein (APP) gene were the first to be recognized as the cause of AD. Methods: Here, a male patient with probable early-onset AD at the age of 55 years from Thailand was investigated by next-generation sequencing. Results: A novel mutation in exon 14 of APP (c.1810C>T, p.V604M) 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 magnetic resonance imaging scan showed progression of hippocampal trophy compared with the initial image. A 3D protein structure model revealed that V604M exchange could result in significant changes in the APP protein due to the increased hydrophobicity of methionine in the helix, which could result in altering of the APP functions. Conclusion: Additional studies to characterize APP p.V604M are necessary to further understand the effects of this mutation.en_US
dc.rightsMahidol Universityen_US
dc.titleIdentification of a novel mutation in APP gene in a thai subject with early-onset Alzheimer’s diseaseen_US
Appears in Collections:Scopus 2018

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