Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

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Tytuł:: Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.
Autorzy:: Zhang S; Psychiatry Department, Beijing Geriatric Hospital, Beijing, China.
Li X; Institute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.
Zhang L; Psychiatry Department, Beijing Geriatric Hospital, Beijing, China.
Meng X; Institute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.
Ma L; Psychiatry Department, Beijing Geriatric Hospital, Beijing, China.
Zhang G; Institute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.
Wu H; Psychiatry Department, Beijing Geriatric Hospital, Beijing, China.
Liang L; Institute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.
Cao M; Psychiatry Department, Beijing Geriatric Hospital, Beijing, China.
Mei F; Institute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.
Źródło:: Frontiers in psychiatry [Front Psychiatry] 2020 May 14; Vol. 11, pp. 347. Date of Electronic Publication: 2020 May 14 (Print Publication: 2020).
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Original Publication: Switzerland : Frontiers Research Foundation, 2010-
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Contributed Indexing:: Keywords: Alzheimer’s disease; PSEN1 mutation; behavioral disturbance; rare coding variants; whole genome sequencing
Entry Date(s):: Date Created: 20200602 Latest Revision: 20200928
Update Code:: 20240104
PubMed Central ID:: PMC7240292
DOI:: 10.3389/fpsyt.2020.00347
PMID:: 32477171
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Alzheimer's disease (AD) is the most common form of neurodegenerative dementia. In this study, whole genome sequencing identifies one rare and likely pathogenic mutation in the presenilin 1 (PSEN1) gene (c.356C > T, p.T119I) associated with a frontal variant of AD. Affected individuals in the kindred developed late-onset cognitive decline accompanied with early presentation of psychiatric symptoms. Positive amyloid PiB PET tracing suggested presence of pathophysiological biomarker for AD. Whole genome sequencing analysis evaluated rare coding mutations in susceptible genes for various types of dementia and supported the role of PSEN1 as a causal gene. Identification of this T119I variant in PSEN1 might broaden the spectrum of genetic basis and clinical diversity of familial AD.
(Copyright © 2020 Zhang, Li, Zhang, Meng, Ma, Zhang, Wu, Liang, Cao and Mei.)

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