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A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer’s dementia supported by structure prediction

Authors Park KW, An SS, Bagyinszky E, Kim SY

Received 28 November 2016

Accepted for publication 13 January 2017

Published 13 February 2017 Volume 2017:12 Pages 367—375


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Richard Walker

Kyung Won Park,1,* Seong Soo An,2,* Eva Bagyinszky,2 SangYun Kim3

1Department of Neurology, Busan Metropolitan Dementia Center, Dong-A University College of Medicine, Busan, 2Department of BioNano Technology and Gachon BioNano Research Institute, Gachon University, 3Department of Neurology, Seoul National University College of Medicine and Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam, South Korea

*These authors contributed equally to this work

Abstract: A 49-year-old Korean male patient with dementia was diagnosed with probable early-onset Alzheimer’s disease (AD). He presented with memory problems, personality changes, and disorientation. His family history of dementia was probably negative, since no family member with dementia was found or mentioned. Mild cortical atrophy was observed upon magnetic resonance imaging analyses of his brain, and the single-photon emission computed tomography analysis revealed hypoperfusion in the frontal, temporal, and limbic lobes. The patient was tested for mutations in APP, PSEN1, PSEN2, PGRN, MAPT, and PRNP genes. Genetic analysis revealed R62C mutation in PSEN2 gene. PSEN2 R62C mutation was previously reported in European populations, including Dutch and Belgian families with AD. Herein, we present the first case report of PSEN2 R62C mutation in Asia. PolyPhen-2 and SIFT software analyses predicted this mutation as “possibly damaging”, suggesting its potential involvement with AD. In silico protein structural prediction analyses of PSEN2 R62 and C62 revealed two divergent structures, suggesting that large perturbations of R62C mutation might cause dysfunctions of PSEN2, which may alter the normal amyloid production.

Keywords: Alzheimer’s disease, PSEN2 mutation, dementia, PET, MRI, presenilin-2

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