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Evento

Rare missense variants in TREM2 and ABCA7 in a patient with sporadic early‐onset alzheimer's disease

Itzcovich, Tatiana; Chrem Mendez, Patricio Alexis; Vazquez, Silvia; Barbieri Kennedy, Micaela; Niikado, Matías; Martinetto, Horacio; Allegri, Ricardo FranciscoIcon ; Sevlever, Gustavo; Surace, Ezequiel IgnacioIcon
Tipo del evento: Conferencia
Nombre del evento: Alzheimer's Association International Conference
Fecha del evento: 25/07/2019
Institución Organizadora: Alzheimer's Association;
Título de la revista: Alzheimer's and Dementia
Editorial: Wiley
ISSN: 1552-5260
Idioma: Inglés
Clasificación temática:
Genética Humana

Resumen

Alzheimer’s disease (AD) is a clinically heterogeneous neurodegenerative disease. Presentations of symptoms in individuals before the age of 65 years are classified as early-onset Alzheimer’s disease (EOAD). According to the family history, cases can be divided into early-onset familial AD (EOFAD) and sporadic (sEOAD). The latter are thought to be predominantly polygenic. The accumulation of variants which independently increase the risk of late-onset Alzheimer’s disease (LOAD) may lead to sEOAD at an earlier stage of life (Barber et al., 2017; Wingo et al., 2012). Here, we present an Argentine patient who began with memory deficits at the age of 49. Magnetic resonance imaging (MRI), single photon emission computed tomography (SPECT) and neurocognitive testing results were compatible with a dementia of the Alzheimer type. Also, the patient did not have family history of the disease
Palabras clave: VARIANT , DEMENTIA , RISK , ARGENTINA
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info:eu-repo/semantics/restrictedAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/129514
URL: https://alz-journals.onlinelibrary.wiley.com/doi/10.1016/j.jalz.2019.06.3762
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Citación
Rare missense variants in TREM2 and ABCA7 in a patient with sporadic early‐onset alzheimer's disease; Alzheimer's Association International Conference; Ámsterdam; Países Bajos; 2019; P1314-P1314
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