Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease

Diego Sepulveda-Falla; Jorge I Vélez; Natalia Acosta-Baena; Ana Baena; Sonia Moreno; Susanne Krasemann; Francisco Lopera; Claudio A Mastronardi; Mauricio Arcos-Burgos

doi:10.1002/alz.13754

Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease

Standard

Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease. / Sepulveda-Falla, Diego; Vélez, Jorge I; Acosta-Baena, Natalia; Baena, Ana; Moreno, Sonia; Krasemann, Susanne; Lopera, Francisco; Mastronardi, Claudio A; Arcos-Burgos, Mauricio.

in: ALZHEIMERS DEMENT, Jahrgang 20, Nr. 4, 04.2024, S. 2873-2885.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Sepulveda-Falla, D, Vélez, JI, Acosta-Baena, N, Baena, A, Moreno, S, Krasemann, S, Lopera, F, Mastronardi, CA & Arcos-Burgos, M 2024, 'Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease', ALZHEIMERS DEMENT, Jg. 20, Nr. 4, S. 2873-2885. https://doi.org/10.1002/alz.13754

APA

Sepulveda-Falla, D., Vélez, J. I., Acosta-Baena, N., Baena, A., Moreno, S., Krasemann, S., Lopera, F., Mastronardi, C. A., & Arcos-Burgos, M. (2024). Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease. ALZHEIMERS DEMENT, 20(4), 2873-2885. https://doi.org/10.1002/alz.13754

Vancouver

Sepulveda-Falla D, Vélez JI, Acosta-Baena N, Baena A, Moreno S, Krasemann S et al. Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease. ALZHEIMERS DEMENT. 2024 Apr;20(4):2873-2885. https://doi.org/10.1002/alz.13754

Bibtex

@article{0ce5f87e607e41f4b892ba4ee27f8400,

title = "Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease",

abstract = "INTRODUCTION: Rate of cognitive decline (RCD) in Alzheimer's disease (AD) determines the degree of impairment for patients and of burden for caretakers. We studied the association of RCD with genetic variants in AD.METHODS: RCD was evaluated in 62 familial AD (FAD) and 53 sporadic AD (SAD) cases, and analyzed by whole-exome sequencing for association with common exonic functional variants. Findings were validated in post mortem brain tissue.RESULTS: One hundred seventy-two gene variants in FAD, and 227 gene variants in SAD associated with RCD. In FAD, performance decline of the immediate recall of the Rey-Osterrieth figure test associated with 122 genetic variants. Olfactory receptor OR51B6 showed the highest number of associated variants. Its expression was detected in temporal cortex neurons.DISCUSSION: Impaired olfactory function has been associated with cognitive impairment in AD. Genetic variants in these or other genes could help to identify risk of faster memory decline in FAD and SAD patients.",

author = "Diego Sepulveda-Falla and V{\'e}lez, {Jorge I} and Natalia Acosta-Baena and Ana Baena and Sonia Moreno and Susanne Krasemann and Francisco Lopera and Mastronardi, {Claudio A} and Mauricio Arcos-Burgos",

note = "{\textcopyright} 2024 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.",

year = "2024",

month = apr,

doi = "10.1002/alz.13754",

language = "English",

volume = "20",

pages = "2873--2885",

journal = "ALZHEIMERS DEMENT",

issn = "1552-5260",

publisher = "Elsevier Inc.",

number = "4",

}

RIS

TY - JOUR

T1 - Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease

AU - Sepulveda-Falla, Diego

AU - Vélez, Jorge I

AU - Acosta-Baena, Natalia

AU - Baena, Ana

AU - Moreno, Sonia

AU - Krasemann, Susanne

AU - Lopera, Francisco

AU - Mastronardi, Claudio A

AU - Arcos-Burgos, Mauricio

PY - 2024/4

Y1 - 2024/4

N2 - INTRODUCTION: Rate of cognitive decline (RCD) in Alzheimer's disease (AD) determines the degree of impairment for patients and of burden for caretakers. We studied the association of RCD with genetic variants in AD.METHODS: RCD was evaluated in 62 familial AD (FAD) and 53 sporadic AD (SAD) cases, and analyzed by whole-exome sequencing for association with common exonic functional variants. Findings were validated in post mortem brain tissue.RESULTS: One hundred seventy-two gene variants in FAD, and 227 gene variants in SAD associated with RCD. In FAD, performance decline of the immediate recall of the Rey-Osterrieth figure test associated with 122 genetic variants. Olfactory receptor OR51B6 showed the highest number of associated variants. Its expression was detected in temporal cortex neurons.DISCUSSION: Impaired olfactory function has been associated with cognitive impairment in AD. Genetic variants in these or other genes could help to identify risk of faster memory decline in FAD and SAD patients.

AB - INTRODUCTION: Rate of cognitive decline (RCD) in Alzheimer's disease (AD) determines the degree of impairment for patients and of burden for caretakers. We studied the association of RCD with genetic variants in AD.METHODS: RCD was evaluated in 62 familial AD (FAD) and 53 sporadic AD (SAD) cases, and analyzed by whole-exome sequencing for association with common exonic functional variants. Findings were validated in post mortem brain tissue.RESULTS: One hundred seventy-two gene variants in FAD, and 227 gene variants in SAD associated with RCD. In FAD, performance decline of the immediate recall of the Rey-Osterrieth figure test associated with 122 genetic variants. Olfactory receptor OR51B6 showed the highest number of associated variants. Its expression was detected in temporal cortex neurons.DISCUSSION: Impaired olfactory function has been associated with cognitive impairment in AD. Genetic variants in these or other genes could help to identify risk of faster memory decline in FAD and SAD patients.

U2 - 10.1002/alz.13754

DO - 10.1002/alz.13754

M3 - SCORING: Journal article

C2 - 38450831

VL - 20

SP - 2873

EP - 2885

JO - ALZHEIMERS DEMENT

JF - ALZHEIMERS DEMENT

SN - 1552-5260

IS - 4

ER -