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Self-stigma in people living with dementia in Chile: A qualitative exploratory study

2021 , Jean Gajardo , Rubén Alvarado , SLACHEVSKY CHONCHOL, ANDREA MARÍA , Laura N. Gitlin

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The first genome‐wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease

2023 , Maria Carolina Dalmasso , Itziar de Rojas , Natividad Olivar , Carolina Muchnik , Bárbara Angel , Sergio Gloger , Mariana Soledad Sanchez Abalos , María Victoria Chacón , Rafael Aránguiz , Paulina Orellana , Carolina Cuesta , Pablo Galeano , Lorenzo Campanelli , Gisela Vanina Novack , Luis Eduardo Martinez , Nancy Medel , Julieta Lisso , Zulma Sevillano , Nicolás Irureta , Eduardo Miguel Castaño , Laura Montrreal , Michaela Thoenes , Claudia Hanses , Stefanie Heilmann‐Heimbach , Claudia Kairiyama , Inés Mintz , Ivana Villella , Fabiana Rueda , Amanda Romero , Nancy Wukitsevits , Ivana Quiroga , Cristian Gona , Jean‐Charles Lambert , Patricia Solis , Daniel Gustavo Politis , Carlos Alberto Mangone , Christian Gonzalez‐Billault , Mercè Boada , Lluís Tàrraga , SLACHEVSKY CHONCHOL, ANDREA MARÍA , Cecilia Albala , Patricio Fuentes , Silvia Kochen , Luis Ignacio Brusco , Agustín Ruiz , Laura Morelli , Alfredo Ramírez

AbstractINTRODUCTIONGenome‐wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities.METHODSWe performed GWAS on sporadic Alzheimer's disease (AD) including 539 patients and 854 controls from Argentina and Chile. We combined our results with those from the European Alzheimer and Dementia Biobank (EADB) in a meta‐analysis and tested their genetic risk score (GRS) performance in this admixed population.RESULTSWe detected apolipoprotein E ε4 as the single genome‐wide significant signal (odds ratio  = 2.93 [2.37–3.63], P = 2.6 × 10−23). The meta‐analysis with EADB summary statistics revealed four new loci reaching GWAS significance. Functional annotations of these loci implicated endosome/lysosomal function. Finally, the AD‐GRS presented a similar performance in these populations, despite the score diminished when the Native American ancestry rose.DISCUSSIONWe report the first GWAS on AD in a population from South America. It shows shared genetics modulating AD risk between the European and these admixed populations.Highlights This is the first genome‐wide association study on Alzheimer's disease (AD) in a population sample from Argentina and Chile. Trans‐ethnic meta‐analysis reveals four new loci involving lysosomal function in AD. This is the first independent replication for TREM2L, IGH‐gene‐cluster, and ADAM17 loci. A genetic risk score (GRS) developed in Europeans performed well in this population. The higher the Native American ancestry the lower the GRS values.

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Gaps in clinical research in frontotemporal dementia: A call for diversity and disparities–focused research

2023 , Sanne Franzen , Karen Nuytemans , Renelle Bourdage , Paulo Caramelli , Ratnavalli Ellajosyula , Elizabeth Finger , Ignacio Illán‐Gala , Samantha M. Loi , Darby Morhardt , Yolande Pijnenburg , Katya Rascovsky , Monique M. Williams , Jennifer S. Yokoyama , Suvarna Alladi , Yavuz Ayhan , Iris Broce , Sheila Castro‐Suarez , Kristy Coleman , Leonardo Cruz de Souza , Penny A. Dacks , Sterre C. M. de Boer , Jessica de Leon , Shana Dodge , Stephanie Grasso , Veer Gupta , Vivek Gupta , Nupur Ghoshal , Vidyulata Kamath , Fiona Kumfor , Jordi A. Matias‐Guiu , Pauline Narme , T. Rune Nielsen , Daniel Okhuevbie , Stefanie D. Piña‐Escudero , Ramiro Ruiz Garcia , Marta Scarioni , SLACHEVSKY CHONCHOL, ANDREA MARÍA , Aida Suarez‐Gonzalez , Boon Lead Tee , Elena Tsoy , Hülya Ulugut , Ganesh M. Babulal , Chiadi U. Onyike

AbstractFrontotemporal dementia (FTD) is one of the leading causes of dementia before age 65 and often manifests as abnormal behavior (in behavioral variant FTD) or language impairment (in primary progressive aphasia). FTD's exact clinical presentation varies by culture, language, education, social norms, and other socioeconomic factors; current research and clinical practice, however, is mainly based on studies conducted in North America and Western Europe. Changes in diagnostic criteria and procedures as well as new or adapted cognitive tests are likely needed to take into consideration global diversity. This perspective paper by two professional interest areas of the Alzheimer's Association International Society to Advance Alzheimer's Research and Treatment examines how increasing global diversity impacts the clinical presentation, screening, assessment, and diagnosis of FTD and its treatment and care. It subsequently provides recommendations to address immediate needs to advance global FTD research and clinical practice.

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The cost of dementia in an unequal country: The case of Chile

2017 , Daniel A. Hojman , Fabian Duarte , Jaime Ruiz-Tagle , Marilu Budnich , Carolina Delgado , Andrea Slachevsky , Stefano Federici

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Multimodal neurocognitive markers of naturalistic discourse typify diverse neurodegenerative diseases

2021 , Agustina Birba , Sol Fittipaldi , Judith C Cediel Escobar , Cecilia Gonzalez Campo , Agustina Legaz , Agostina Galiani , Mariano N Díaz Rivera , Miquel Martorell Caro , Florencia Alifano , Stefanie D Piña-Escudero , Juan Felipe Cardona , Alejandra Neely , Gonzalo Forno , Mariela Carpinella , Andrea Slachevsky , Cecilia Serrano , Lucas Sedeño , Agustín Ibáñez , Adolfo M García

Abstract Neurodegeneration has multiscalar impacts, including behavioral, neuroanatomical, and neurofunctional disruptions. Can disease-differential alterations be captured across such dimensions using naturalistic stimuli? To address this question, we assessed comprehension of four naturalistic stories, highlighting action, nonaction, social, and nonsocial events, in Parkinson’s disease (PD) and behavioral variant frontotemporal dementia (bvFTD) relative to Alzheimer’s disease patients and healthy controls. Text-specific correlates were evaluated via voxel-based morphometry, spatial (fMRI), and temporal (hd-EEG) functional connectivity. PD patients presented action–text deficits related to the volume of action–observation regions, connectivity across motor-related and multimodal-semantic hubs, and frontal hd-EEG hypoconnectivity. BvFTD patients exhibited social–text deficits, associated with atrophy and spatial connectivity patterns along social-network hubs, alongside right frontotemporal hd-EEG hypoconnectivity. Alzheimer’s disease patients showed impairments in all stories, widespread atrophy and spatial connectivity patterns, and heightened occipitotemporal hd-EEG connectivity. Our framework revealed disease-specific signatures across behavioral, neuroanatomical, and neurofunctional dimensions, highlighting the sensitivity and specificity of a single naturalistic task. This investigation opens a translational agenda combining ecological approaches and multimodal cognitive neuroscience for the study of neurodegeneration.

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Dataset - Multi-feature computational framework for combined signatures of dementia in underrepresented settings

2022 , SLACHEVSKY CHONCHOL, ANDREA MARÍA

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Evaluating a Memory Clinic Using the RE-AIM Model. The Experience of the “Memory and Neuropsychiatry Clinic” in Hospital Del Salvador, Chile

2021 , Tomas Leon , Loreto Castro , Franco Mascayano , Brian Lawlor , SLACHEVSKY CHONCHOL, ANDREA MARÍA

The development of healthcare services for dementia is key to improving access to care and post-diagnostic support for people living with dementia. Memory Units have emerged as a new healthcare service composed of multidisciplinary teams with the goal of improving diagnosis and/or management of dementia patients. The main objective of this study was to describe and evaluate the Reach and Effectiveness of a Memory Unit in a public hospital in Chile, using the RE-AIM model, a multi-component model that allows for the evaluation of the implementation of ongoing healthcare programs. Regarding “R” (Reach): from March 2018 up to June 2019, a total of 510 patients were referred and assessed. Most patients came from primary care (51.9%) and from outpatient services at the Hospital Salvador (39.2%), particularly from the Neurology (63.3%) and Psychiatry (16.0%) departments. We estimated that our Memory Unit assessed 5.39% of all of the dementia patients living in the area of referral. With respect to “E” (Effectiveness): 419 patients are still being followed up at the Memory Unit. Ninety-one patients (18%) were discharged. Of these, 55 (66%) were referred to primary healthcare, 28 (31%) to other outpatient services, 9 (10%) to a specialized mental healthcare center, and 9 (10%) to a daycare center. Due to the short period of time that the Memory Unit has been operating, no other RE-AIM dimensions could be evaluated at this juncture. To our knowledge, this is the first implementation study of a Memory Unit in Latin America, and the first using the RE-AIM model. Although cultural differences worldwide might play a role in the lack of international guidelines, the publication of the experience of the first year of this unit in Chile could inform new countries about this process. Ongoing challenges include continuing to collect data to complement the RE-AIM evaluation and developing a protocol that can be adopted elsewhere in Chile and Latin America. Further studies are needed to assess the benefits of a Memory Unit in comparison to regular care and to develop a model that assures continuity and coordination of care for people with dementia.

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Fronto-Subcortical Circuits for Cognition and Motivation: Dissociated Recovery in a Case of Loss of Psychic Self-Activation

2019 , Rodrigo Riveros , Serge Bakchine , Bernard Pillon , Fabrice Poupon , Marcelo Miranda , Andrea Slachevsky

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Aging and Health Policies in Chile: New Agendas for Research

2017 , Daniela Thumala , Brian K. Kennedy , Esteban Calvo , Christian Gonzalez-Billault , Pedro Zitko , Patricia Lillo , Roque Villagra , Agustín Ibáñez , Rodrigo Assar , Maricarmen Andrade , Andrea Slachevsky

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Interoception Primes Emotional Processing: Multimodal Evidence from Neurodegeneration

2021 , Paula C. Salamone , Agustina Legaz , Lucas Sedeño , Sebastián Moguilner , Matías Fraile-Vazquez , Cecilia Gonzalez Campo , Sol Fittipaldi , Adrián Yoris , Magdalena Miranda , Agustina Birba , Agostina Galiani , Sofía Abrevaya , Alejandra Neely , Miguel Martorell Caro , Florencia Alifano , Roque Villagra , Florencia Anunziata , Maira Okada de Oliveira , Ricardo M. Pautassi , Andrea Slachevsky , Cecilia Serrano , Adolfo M. García , Agustín Ibañez