Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

Jen-Chyong Wang; Somayeh Alinaghi; Abbas Tafakhori; Elizabeth Sikora; Luis J. Azcona; Siamak Karkheiran; Alison Goate; Coro Paisán-Ruiz; Hossein Darvish

doi:10.1016/j.neurobiolaging.2017.10.011

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

Jen-Chyong Wang, Somayeh Alinaghi, Abbas Tafakhori, Elizabeth Sikora, Luis J. Azcona, Siamak Karkheiran, Alison Goate, Coro Paisán-Ruiz, Hossein Darvish

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations (1 novel and 1 known) in 2 unrelated Iranian families with autosomal-dominant Alzheimer's disease. The disease progressed rapidly with a mean age at onset of 33 and 42 years and an age at death ranging from 43 to 48 years.

Original language	English
Pages (from-to)	244.e15-244.e17
Journal	Neurobiology of Aging
Volume	62
DOIs	https://doi.org/10.1016/j.neurobiolaging.2017.10.011
Publication status	Published - 2018
Externally published	Yes

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10.1016/j.neurobiolaging.2017.10.011

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title = "Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation",

abstract = "A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations (1 novel and 1 known) in 2 unrelated Iranian families with autosomal-dominant Alzheimer's disease. The disease progressed rapidly with a mean age at onset of 33 and 42 years and an age at death ranging from 43 to 48 years.",

author = "Jen-Chyong Wang and Somayeh Alinaghi and Abbas Tafakhori and Elizabeth Sikora and Azcona, {Luis J.} and Siamak Karkheiran and Alison Goate and Coro Pais{\'a}n-Ruiz and Hossein Darvish",

year = "2018",

doi = "10.1016/j.neurobiolaging.2017.10.011",

language = "English",

volume = "62",

pages = "244.e15--244.e17",

journal = "Neurobiology of Aging",

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T1 - Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

AU - Wang, Jen-Chyong

AU - Alinaghi, Somayeh

AU - Tafakhori, Abbas

AU - Sikora, Elizabeth

AU - Azcona, Luis J.

AU - Karkheiran, Siamak

AU - Goate, Alison

AU - Paisán-Ruiz, Coro

AU - Darvish, Hossein

PY - 2018

Y1 - 2018

N2 - A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations (1 novel and 1 known) in 2 unrelated Iranian families with autosomal-dominant Alzheimer's disease. The disease progressed rapidly with a mean age at onset of 33 and 42 years and an age at death ranging from 43 to 48 years.

AB - A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations (1 novel and 1 known) in 2 unrelated Iranian families with autosomal-dominant Alzheimer's disease. The disease progressed rapidly with a mean age at onset of 33 and 42 years and an age at death ranging from 43 to 48 years.

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85034984972&origin=inward

UR - https://www.ncbi.nlm.nih.gov/pubmed/29175279

U2 - 10.1016/j.neurobiolaging.2017.10.011

DO - 10.1016/j.neurobiolaging.2017.10.011

M3 - Article

C2 - 29175279

VL - 62

SP - 244.e15-244.e17

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

Abstract

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