PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease

PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease

An in depth study of PSEN1 mutation p.Thr116Ile (c.335C>T) is presented from two Korean families with autosomal dominant inheritance. Clinical manifestation of our patients included memory loss, attention deficits, visuospatial dysfunction, agnosia, aphasia, apraxia, and personality changes,...

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Bibliographic Details
Main Authors: Eva Bagyinszky, Hye-Mi Lee, Vo Van Giau, Seong-Beom Koh, Jee Hyang Jeong, Seong Soo A. An, SangYun Kim
Format: Article
Language:English
Published: MDPI AG 2018-09-01
Series:International Journal of Molecular Sciences
Subjects:
young onset Alzheimer’s dementia
familial
presenilin-1
mutation
PSEN1 Thr116Ile mutation
Online Access:http://www.mdpi.com/1422-0067/19/9/2604

Internet

http://www.mdpi.com/1422-0067/19/9/2604

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