https://repositorio.fleni.org.ar/xmlui/handle/123456789/182 Sun, 05 Apr 2026 14:45:39 GMT 2026-04-05T14:45:39Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1483 CADASIL Argentine Registry: Study Design and Preliminary Data Ardohain Cristalli, Carolina Agata; Rosales, Julieta Soledad; Gonzalez, Fabio; Selvaggi, Valentin; Alonso, Julián Martín; López, Juan Ignacio; Aguilar, Martín Santiago; Kauffman, Marcelo; Saks, Danit G.; Allegri, Ricardo Francisco; Sevlever, Gustavo Emilio; Chaves, Hernán; Cristalli, Diana Olga; Calandri, Ismael Luis Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common hereditary small vessel disease, leads to early-onset stroke and vascular cognitive impairment (VCI). Despite its importance, data from Latin America remain scarce. The CADASIL Argentine registry (CADASILAr) was created to harmonize clinical data, promote international collaboration, and provide a reproducible, longitudinal framework to study disease progression and expand to neighboring countries. This study aims to present the cohort design and preliminary results from the cross-sectional phase. Method: CADASILAr was developed to document demographic, clinical, imaging, and genetic features of CADASIL patients and to explore factors associated with disease progression and cognitive decline in an Argentinian multisite cohort. The study includes two phases: (1) a cross-sectional phase (CADASILAR-C) and (2) a longitudinal phase (CADASILAR-Long), following adults aged ≥18 years with genetically confirmed or suspected CADASIL. Variables collected include demographics, symptom onset, clinical features, neuroimaging, genetic data, and vascular risk factors. The study also examines socio-economic disparities, integrates biobanks, and harmonizes data collection with international CADASIL and dementia registries. Longitudinal followups are planned annually over 5 years (Figure 1), with cognitive batteries aligned with international cohorts and a brain donation program to establish a CADASIL brain bank in Argentina. Result: Preliminary data from 90 patients (50% female) show a mean age of 43.8±11.9 years, with family history in 91.6% (Figure 2). The most common clinical presentations were cerebrovascular events (72.9%), cognitive impairment (56.7%), and migraine (69%). The most frequent comorbidities included hypertension (64%) and dyslipidemia (55%). Among 86 confirmed cases, 63 were diagnosed through genetic testing and 20 through skin biopsy. Genetic analysis identified cysteine-altering NOTCH3 mutations in all confirmed cases, predominantly affecting epidermal growth factor-like repeats (Figure 3). Of the 33 patients assessed with the MMSE, the median score was 28 (IQR: 22–29). Conclusion: CADASILAr is the first systematic effort to study this disease in Latin America and the twelfth global CADASIL registry. By integrating baseline and longitudinal data, it offers a robust platform to investigate genetic, neuroimaging, and cognitive outcomes while fostering international collaborations to advance research and understanding of CADASIL. Mon, 01 Jan 2024 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/1483 2024-01-01T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1360 2- Cognitive Impairment and Dementia in Latin American Individuals with Parkinsonism and Parkinson’s Disease: A 10/66 Dementia Research Group Study (Ana Luisa Sosa) Sosa, Ana Luisa; Khan, N.; Arruabarrena, Micaela María; Kim, D.J.; Jiang, M.; Llibre-Guerra, Jorge J.; Rodriguez-Salgado, A.M.; Acosta, I.; Acosta, D.; Jimenez-Velasquez, I.Z.; Guerra, M.; Salas, A.; López-Contreras, R.; Dhara, Santana; Hesse, H.; Tanner, C.; Prina, M.; Llibre-Guerra, J.J.; 10/66 Dementia ResearchGroup Sun, 01 Sep 2024 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/1360 2024-09-01T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1348 Experts envision a valuable role for tau-PET in clinical practiceand drug trials Vermeiren, Marie R.; Calandri, Ismael Luis; van der Flier, Wiesje M.; van de Giessen, Elsmarieke; Ossenkoppele, Rik Background: Recent advancements in Alzheimer’s disease (AD) biomarker researchand AD drug trials prompt reflection on the value and appropriate use of tau-PET infuture clinical practice and trials. We therefore conducted a survey among dementiaand PET experts worldwide to investigate how they envision the future role of tau-PETin clinical practice and trials.Method: An online survey was distributed to dementia clinicians and researchers whowere invited to participate through personalized emails, social media channels and/orpresentations at relevant conferences. With this approach we intended to recruitparticipants from different countries with diverse backgrounds and expertise. Thesurvey questions explored experts’ opinions on the value of tau-PET in clinical practiceand in drug development and trials. We used a mix of multiple choice questions,statements with a 5-point Likert scale (“strongly disagree” to “strongly agree”) and afew open questions.Result: In total 269 dementia experts, comprising 144 clinicians and 121 researchers,covering six continents completed the survey (Figure 1). The vast majority (90%)fosters a positive attitude on the added value of tau-PET in clinical practice, particularlyfor staging, diagnosing, monitoring and prognostication in a cognitively impairedmemory clinic population (Figure 2). When confronted with clinical case vignettes, ourfindings suggest that a tau-PET scan is perceived particularly useful in patients withan atypical presentation (78%) or suspicion of mixed pathology (66%) and less usefulin a typical AD case (25%). Experts are confident that a tau-PET scan could influencepatient management in current practice (median 4 “agree” [IQR 4-5]) and this wouldincrease when effective disease-modifying treatments are available (median 4 “agree”[IQR 3-4]) (Figure 2). Experts anticipate an important role for tau-PET for participantselection (76-100%) and measuring endpoints (75-97%), in both anti-amyloid andanti-tau drug trials (Figure 3). Mon, 01 Jan 2024 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/1348 2024-01-01T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1347 Development of a Multidomain Composite InterventionEngagement Score in the U.S. POINTER Trial Ghadimi Nouran, Mina; Katula, Jeffrey A.; Ventrelle, Jennifer; Graef, Sarah; Garcia, Katelyn R.; Lovato, Laura; Wilmoth, Sharon; Woolard, Nancy; Leng, Xiaoyan; Calandri, Ismael Luis; Snyder, Heather M.; Bake, Laura D. Background Multidomain lifestyle interventions have shown promise to slow cognitive decline and possibly prevent dementia. However, challenges arise in analyzing and interpreting treatment response when participants vary in their adherence to intervention components. The U.S. POINTER trial, a phase 3, multicenter, randomized 2-year clinical trial, is investigating the impact of lifestyle interventions on cognition in older adults at risk of cognitive decline. Methods Four composite scores are proposed to assess engagement in the POINTER multidomain intervention. Results Composite score one was based on the U.S. POINTER Prescription adherence goals for three intervention domains (physical activity, diet, brain training). For this composite score, values range from 0 to 1.25, where “1” signifies the adherence goal was met, and “1.25” indicates the goal was exceeded (Table 1). The composite score is the sum of values across domains. Composite score two was constructed using Consistent Intervals, maintaining consistent scaling between the measurement of intervention domains and the values. The composite score is the sum of the values across the three domains, each ranging 0 to 1 (Table 1). Composite score three employed a Proportional Approach, measuring engagement in the three intervention domains as a proportion of achieved U.S. POINTER prescription goals. The composite score is the sum of values across domains. Composite score four utilized Exploratory Factor Analysis to identify optimal weighting for each domain’s adherence scores, aiming for a comprehensive assessment of participants' behavior. Missing data are examined in two ways: (a) assume missing data indicates no adherence and assign zero, and (b) multiple imputation to predict missing values before composite calculation. Properties of the four composites are examined using simulated datasets in preparation for later use in U.S. POINTER. Distributions, central tendency, and variability of adherence values for each composite score will be presented. Conclusion Four possible multidomain adherence composite scores are proposed, reflecting intervention engagement in U.S. POINTER. In the future, we will explore sensitivity of each composite score to detect treatment-related change in cognition. This study will lay the foundation for broader applications in other multidomain trials with quantifiable adherence metrics, such as FINGER and LatAm-FINGERS. Mon, 01 Jan 2024 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/1347 2024-01-01T00:00:00Z