Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation

Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation Publisher Pubmed

Wang JC^{1, 2, 3} ; Alinaghi S⁴ ; Tafakhori A⁵ ; Sikora E¹ ; Azcona LJ^{1, 6} ; Karkheiran S⁷ ; Goate A^{1, 2, 3, 6, 8} ; Paisanruiz C^{2, 3, 6, 8, 9, 10} ; Darvish H⁴

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1. Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, United States
2. Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States
3. Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, New York, NY, United States
4. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5. Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran
6. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, United States
7. Movement Disorders Clinic, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran
8. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States
9. Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, United States
10. Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States

Source: Neurobiology of Aging Published:2018

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. © 2017 Elsevier Inc.

2. Potential Mediating Role of Polygenic Hazard Score in the Association Between Neurofilament Light Chain and Default Mode Network Connectivity Across the Alzheimer's Disease Continuum, IBRO Neuroscience Reports (2025)

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Mahtab Alizadeh-Khoei (1)

Style	Citing Format
MLA	Wang JC, et al.. "Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation." Neurobiology of Aging, vol. 62, no. , 2018, pp. 244.e15-244.e17.
APA	Wang JC, Alinaghi S, Tafakhori A, Sikora E, Azcona LJ, Karkheiran S, Goate A, Paisanruiz C, Darvish H (2018). Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation. Neurobiology of Aging, 62(), 244.e15-244.e17.
Chicago	Wang JC, Alinaghi S, Tafakhori A, Sikora E, Azcona LJ, Karkheiran S, Goate A, Paisanruiz C, Darvish H. "Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation." Neurobiology of Aging 62, no. (2018): 244.e15-244.e17.
Harvard	Wang JC et al. (2018) 'Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation', Neurobiology of Aging, 62(), pp. 244.e15-244.e17.
Vancouver	Wang JC, Alinaghi S, Tafakhori A, Sikora E, Azcona LJ, Karkheiran S, et al.. Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation. Neurobiology of Aging. 2018;62():244.e15-244.e17.
BibTex	@article{ author = {Wang JC and Alinaghi S and Tafakhori A and Sikora E and Azcona LJ and Karkheiran S and Goate A and Paisanruiz C and Darvish H}, title = {Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation}, journal = {Neurobiology of Aging}, volume = {62}, number = {}, pages = {244.e15-244.e17}, year = {2018} }
RIS	TY - JOUR AU - Wang JC AU - Alinaghi S AU - Tafakhori A AU - Sikora E AU - Azcona LJ AU - Karkheiran S AU - Goate A AU - Paisanruiz C AU - Darvish H TI - Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation JO - Neurobiology of Aging VL - 62 IS - SP - 244.e15 EP - 244.e17 PY - 2018 ER -

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