Argentina-Alzheimer's Disease Neuroimaging Initiative: pioneering Alzheimer's Research in Latin America and its Implications for Regional Advancement.

The Alzheimer's Disease Neuroimaging Initiative (ADNI) has fostered collaboration among researchers around the world, catalyzing innovation and accelerating progress in the field. In Latin America, this initiative advanced the validation and development of Alzheimer's disease biomarkers for the first time in our region. In 2011, as part of the international ADNI, Argentina-ADNI (Arg-ADNI) was founded. The following years were characterized by strong support from entities such as the Alzheimer's Association, transforming into the emergence of several multinational studies focusing on prevention and diagnosis, and treatment of dementias. These studies are heirs to the tradition of Arg-ADNI: the Dominantly Inherited Alzheimer Network, Latin American Initiative for Lifestyle Intervention to Prevent Cognitive Decline, Longitudinal Early-Onset Alzheimer's Disease Study, and Initiative for the Study of Down Syndrome and Alzheimer's Disease. These initiatives have contributed significantly to the development of regional research and serve as essential tools for health policy planning in Latin America. HIGHLIGHTS: In Latin America, the Alzheimer's Disease Neuroimaging Initiative (ADNI) advanced the validation and development of Alzheimer's disease biomarkers for the first time in our region. ADNI has been the basis that boosted several multinational studies focusing on both prevention and diagnosis, and treatment of dementias (Dominantly Inherited Alzheimer Network, LatAm-FINGER, LEADS). These initiatives with the support from the Alzheimer's Association have contributed significantly to the development of regional research This is an example of collaboration between high-income countries with low- and middle-income countries aimed at global scientific development and inclusion.

Advancements in dementia research, diagnostics, and care in Latin America: Highlights from the 2023 Alzheimer's Association International conference satellite symposium in Mexico City.

INTRODUCTION: While Latin America (LatAm) is facing an increasing burden of dementia due to the rapid aging of the population, it remains underrepresented in dementia research, diagnostics, and care. METHODS: In 2023, the Alzheimer's Association hosted its eighth satellite symposium in Mexico, highlighting emerging dementia research, priorities, and challenges within LatAm. RESULTS: Significant initiatives in the region, including intracountry support, showcased their efforts in fostering national and international collaborations; genetic studies unveiled the unique genetic admixture in LatAm; researchers conducting emerging clinical trials discussed ongoing culturally specific interventions; and the urgent need to harmonize practices and studies, improve diagnosis and care, and use affordable biomarkers in the region was highlighted. DISCUSSION: The myriad of topics discussed at the 2023 AAIC satellite symposium highlighted the growing research efforts in LatAm, providing valuable insights into dementia biology, genetics, epidemiology, treatment, and care.

Sex and Socioeconomic Disparities in Dementia Risk: A Population-Attributable Fraction Analysis in Argentina.

INTRODUCTION: Twelve modifiable risk factors (RFs) account for 40% of dementia cases worldwide. However, limited data exist on such factors in middle- and low-income countries. We aimed to estimate the population-attributable fractions (PAFs) for the 12 RFs in Argentina, assessing changes over a decade and exploring socioeconomic and sex influences. METHODS: We conducted cross-sectional analyses of the 12 RFs from Argentinian surveys conducted in 2009, 2015, and 2018, including 96,321 people. We calculated PAFs and stratified estimates based on sex and income. RESULTS: We estimated an overall PAF of 59.6% (95% CI = 58.9-60.3%). The largest PAFs were hypertension = 9.3% (8.7-9.9%), physical inactivity = 7.4% (6.8-8.2%), and obesity = 7.4% (6.8-7.9%). Men were more impacted by excessive alcohol, while women by isolation and smoking. Lower income linked to higher PAFs in education, hypertension, and obesity. DISCUSSION: Argentina has a higher PAF for dementia than the world population, with distinct RF distribution. PAF varied by sex and economic status, advocating tailored prevention strategies.

A task force for diagnosis and treatment of people with Alzheimer's disease in Latin America.

Alzheimer's disease (AD) represents a substantial burden to patients, their caregivers, health systems, and society in Latin America and the Caribbean (LAC). This impact is exacerbated by limited access to diagnosis, specialized care, and therapies for AD within and among nations. The region has varied geographic, ethnic, cultural, and economic conditions, which create unique challenges to AD diagnosis and management. To address these issues, the Americas Health Foundation convened a panel of eight neurologists, geriatricians, and psychiatrists from Argentina, Brazil, Colombia, Ecuador, Guatemala, Mexico, and Peru who are experts in AD for a three-day virtual meeting to discuss best practices for AD diagnosis and treatment in LAC and create a manuscript offering recommendations to address identified barriers. In LAC, several barriers hamper diagnosing and treating people with dementia. These barriers include access to healthcare, fragmented healthcare systems, limited research funding, unstandardized diagnosis and treatment, genetic heterogeneity, and varying social determinants of health. Additional training for physicians and other healthcare workers at the primary care level, region-specific or adequately adapted cognitive tests, increased public healthcare insurance coverage of testing and treatment, and dedicated search strategies to detect populations with gene variants associated with AD are among the recommendations to improve the landscape of AD.

El funcionamiento cognitivo como endofenotipo de la anorexia nerviosa. Estudio en familiares no afectados por la enfermedad / Cognitive functioning as an endophenotype of anorexia nervosa. A study in first-degree relatives unaffected by the disease

Resumen El perfil cognitivo de los pacientes con anorexia nerviosa se caracteriza por dificultades en la flexibilidad mental y en la coherencia central. El objetivo de este trabajo fue analizar si los familiares de primer grado no afectados de los pacientes presentan estas dificultades cognitivas, que podrían representar rasgos endofenotípicos de la enfermedad. Fueron estudiadas 34 mujeres: 17 familiares de primer grado (madres y hermanas) de pacientes con anorexia nerviosa y 17 controles sanos agrupados por edad y escolaridad. Se consideraron el índice de masa corporal, la ansiedad, la depresión, los síntomas obsesivo-compulsivos y los relacionados con los trastornos alimentarios. Se evaluó la coherencia central, mediante la copia de la Figura Compleja de Rey, y la flexibilidad mental, mediante el test de Stroop, el test de los trazos B y el test de fluencia fonológica. Los familiares de pacientes con anorexia nerviosa presentaron un menor rendimiento en las medidas de coherencia central (p < .05) y en fluencia fonológica (p < .05) que los controles sanos. Se observó una correlación entre el test de Stroop y los síntomas de depresión y trastornos alimentarios (p < .05). Los familiares de primer grado no afectados de pacientes con anorexia nerviosa presentaron dificultades en la coherencia central y, en menor grado, en la flexibilidad mental. Los resultados en los familiares indican que este perfil podría ser mediado genéticamente, constituyendo un rasgo característico de la anorexia nerviosa y, por ende, un posible candidato a endofenotipo neuropsicológico de esta enfermedad.

Abstract The cognitive profile of patients with anorexia nervosa is characterized by difficulties in central coherence and mental flexibility. Central coherence is defined by the ability to integrate incoming information in its own context, and weakness in central coherence is characterized by poor overall processing and superior detail processing. Mental flexibility is defined by the ability to change the course of a thought or action according to the demands of the environment. Alterations in this cognitive domain generate rigid and inflexible behavior. An open question in the literature is whether these cognitive characteristics are a transient state derived from the disease or whether they are stable traits associated with anorexia nervosa and endophenotypical features of this disease. The concept of endophenotype refers to the internal phenotype that is not clinically appreciable but can be observed indirectly through deficits that arise in the performance of certain neuropsychological tests. In recent years the search for endophenotypes has been renewed in the field of psychiatry as they would constitute an important route for the understanding of the biological and genetic bases of mental illnesses, constituting markers that allow a diagnosis before the onset of clinical symptomatology. For a cognitive marker to be considered an endophenotype it must meet a series of characteristics such as being measurable, inherited, found in patients with and without active disease and in first-degree relatives not affected by the disease. The aim of the present study was to assess whether difficulties in central coherence and mental flexibility are shared by unaffected first-degree relatives of patients with anorexia nervosa and thus constitute an endophenotypical feature of this disease. This is a cross-sectional, descriptive-comparative study in which 34 women participated: 17 unaffected first-degree relatives of patients with anorexia nervosa (mothers and sisters) and 17 healthy controls matched by age and education. For the study of central coherence the copy of Rey's Complex Figure was used and to assess set-shifting the Stroop test, the Trail Making Test B and the Phonological Fluency test were used. Demographic and clinical aspects such as age, educational level, body mass index, anxiety, depression, obsessive-compulsive and eating disorder related symptoms were also evaluated. First-degree relatives of patients with anorexia nervosa showed lower performance on measures of central coherence (p < .05) and phonological fluency (p < .05) than healthy controls. A correlation was observed between the Stroop test and depression and eating disorders symptoms (p < .05). The results of this study show that unaffected first-degree relatives of patients with anorexia nervosa presented alterations in central coherence and, to a lesser degree, in mental flexibility. These results, in addition to previous research in which difficulties persisted even after recovery, indicate that these alterations could be genetically mediated, constituting a characteristic trait of anorexia nervosa and therefore a possible candidate for neuropsychological endophenotype of this disease. Regarding practical implications of the study, the findings reinforce the importance of cognitive remediation treatments not only for patients with anorexia nervosa but also emphasize that they could be useful for unaffected family members. Taking into account that family intervention is a widely used tool in the psychological treatment of anorexia, improving the perception of the patient and his relatives about cognitive biases, could contribute to raising awareness of the disease, something that patients with anorexia nervosa do not usually have, and generate a positive impact on the response to treatment as a whole.

Improvement of episodic memory retention by a memory reactivation intervention across the lifespan: from younger adults to amnesic patients.

Spontaneous reactivation of recently acquired memories is a fundamental mechanism of memory stabilization. Re-exposure to specific learned cues during sleep or awake states, namely targeted memory reactivation, has been shown to improve memory retention at long delays. Manipulation of memory reactivation could have potential clinical value in populations with memory deficits or cognitive decline. However, no previous study investigated a target memory reactivation approach on those populations. Here we tested the hypothesis that a reactivation-based intervention would improve episodic memory performance in healthy adults and amnestic patients. On Day 1, young adults, old adults and amnestic Mild Cognitive Impairment patients (n = 150) learned face-name pairs and 24 h later either received a reactivation intervention or a reactivation control (Day 2). On Day 3, associative and item memory were assessed. A robust Bayesian Generalized Mixed Model was implemented to estimate intervention effects on groups. Groups that underwent the reactivation-based intervention showed improved associative memory retention. Notably, amnestic patients benefited more from the intervention as they also had better item memory retention than controls. These findings support memory reactivation as stabilization and strengthening mechanism irrespectively of age and cognitive status, and provides proof-of-concept evidence that reactivation-based interventions could be implemented in the treatment and rehabilitation of populations with memory deficits.

Psychological distress and mental health trajectories during the COVID-19 pandemic in Argentina: a longitudinal study.

Psychological-distress increased at the onset of the COVID-19 pandemic in Argentina. Longitudinal studies in developing countries are scarce. Particularly, Argentina had one of the longest lockdowns. Differences in preventive measures against the virus spread between countries may differentially affect the mental health of the populations. Here we aimed to characterize distinct psychological-distress and related-symptoms trajectories associated with the pandemic and explore risk/protective factors. In this longitudinal study, data from 832 Argentineans were collected every 3-5 months, between April 2020-August 2021. Mean psychological-distress levels and related-symptoms tended to increase over time. However, latent-class analysis identified four distinct psychological-distress trajectories. Most individuals had consistently good mental health (Resilient). Two classes showed psychological-distress worsening during the initial phase of the pandemic and recovered at different time points (Fast Recovery; Slow Recovery). The remaining class maintained a mild -level of psychological-distress and began to deteriorate in March 2021 (Deteriorating) continuously. Individuals who are younger, female, have pre-existing psychiatric diagnoses, or have high neuroticism or lower resilience were more likely to experiencing fluctuations in psychological-distress. The mental health trajectory during the pandemic had a complex dynamic. Although most participants remained resilient, a vulnerable group was detected, which deteriorated over time and should be considered by health-services.

Changes in cognitive functioning after COVID-19: A systematic review and meta-analysis.

INTRODUCTION: We conducted a systematic review and meta-analysis of the cognitive effects of coronavirus disease 2019 (COVID-19) in adults with no prior history of cognitive impairment. METHODS: Searches in Medline/Web of Science/Embase from January 1, 2020, to December 13, 2021, were performed following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.  A meta-analysis of the Montreal Cognitive Assessment (MoCA) total score comparing recovered COVID-19 and healthy controls was performed. RESULTS: Oof 6202 articles, 27 studies with 2049 individuals were included (mean age = 56.05 years, evaluation time ranged from the acute phase to 7 months post-infection). Impairment in executive functions, attention, and memory were found in post-COVID-19 patients.  The meta-analysis was performed with a subgroup of 290 individuals and showed a difference in MoCA score between post-COVID-19 patients versus controls (mean difference = -0.94, 95% confidence interval [CI] -1.59, -0.29; P = .0049). DISCUSSION: Patients recovered from COVID-19 have lower general cognition compared to healthy controls up to 7 months post-infection.

Working Group Recommendations for the Practice of Teleneuropsychology in Latin America.

OBJECTIVE: Teleneuropsychology (teleNP) could potentially expand access to services for patients who are confined, have limited personal access to healthcare, or live in remote areas. The emergence of the COVID-19 pandemic has significantly increased the use of teleNP for cognitive assessments. The main objective of these recommendations is to identify which procedures can be potentially best adapted to the practice of teleNP in Latin America, and thereby facilitate professional decision-making in the region. METHOD: Steps taken to develop these recommendations included (1) formation of an international working group with representatives from 12 Latin American countries; (2) assessment of rationale, scope, and objectives; (3) formulation of clinical questions; (4) evidence search and selection; (5) evaluation of existing evidence and summary; and (6) formulation of recommendations. Levels of evidence were graded following the Oxford Centre for Evidence-Based Medicine system. Databases examined included PubMed, WHO-IRIS, WHO and PAHO-IRIS, Índice Bibliográfico Español en Ciencias de la Salud (IBCS), and LILACS. RESULTS: Working group members reviewed 18,400 titles and 422 abstracts and identified 19 articles meeting the criteria for level of evidence, categorization, and elaboration of recommendations. The vast majority of the literature included teleNP tests in the English language. The working group proposed a series of recommendations that can be potentially best adapted to the practice of teleNP in Latin America. CONCLUSIONS: There is currently sufficient evidence to support the use of videoconferencing technology for remote neuropsychological assessments. These recommendations will likely contribute to the advancement of teleNP research and practice in the region.

Diagnostic accuracy of the UDS 3.0 neuropsychological battery in a cohort with Alzheimer's disease in Colombia.

BACKGROUND: Alzheimer's disease (AD) is a neurodegenerative disease that causes a gradual loss of cognitive functions and limits daily activities performance. Early diagnosis of AD is essential to start timely treatment. This study aimed to validate the Uniform Data Set neuropsychological battery version 3.0 (UDS 3.0) in a Colombian cohort. METHODS: This study is a cross-sectional type, consecutive, incidental, with 143 persons, divided into two groups: 48 diagnosed AD cases and 95 healthy controls, between the ages of 50 and 80+, and between 1 and 19+ years of education. RESULTS: The results indicate differences between the control group and the AD group in most battery tests. A significant correlation was found between the Montreal Cognitive Assessment (MoCA), Multilingual Naming Test (MINT), Craft Story, Benson Figure Test, P-word and F-word Phonemic Fluency Test, and their respective reference tests. Cutoff points were found based on the Youden index for each sub-test. The results indicate that all sub-tests are above the reference line of the ROC curve. CONCLUSION: The use of the UDS 3.0 in Colombia would help improving clinical diagnostic routes because of its high accuracy and high correlation with tests that measure general impairment; it has good sensitivity and specificity, and it can be a useful tool for AD.

Computational basis of decision-making impairment in multiple sclerosis.

BACKGROUND: Multiple sclerosis (MS) is commonly associated with decision-making, neurocognitive impairments, and mood and motivational symptoms. However, their relationship may be obscured by traditional scoring methods. OBJECTIVES: To study the computational basis underlying decision-making impairments in MS and their interaction with neurocognitive and neuropsychiatric measures. METHODS: Twenty-nine MS patients and 26 matched control subjects completed a computer version of the Iowa Gambling Task (IGT). Participants underwent neurocognitive evaluation using an expanded version of the Brief Repeatable Battery. Hierarchical Bayesian Analysis was used to estimate three established computational models to compare parameters between groups. RESULTS: Patients showed increased learning rate and reduced loss-aversion during decision-making relative to control subjects. These alterations were associated with: (1) reduced net gains in the IGT; (2) processing speed, executive functioning and memory impairments; and (3) higher levels of depression and current apathy. CONCLUSION: Decision-making deficits in MS patients could be described by the interplay between latent computational processes, neurocognitive impairments, and mood/motivational symptoms.

Changes in the Care of Neurological Diseases During the First Wave of the COVID-19 Pandemic: A Single Private Center Study in Argentina.

Introduction: Healthcare systems are struggling to cope with the rapid evolution of the COVID-19 pandemic. In Argentina, the pandemic is advancing despite prolonged lockdown measures. We aim to analyze the impact of the easing of lockdown measures in the number of visits to the emergency department (ED), and outpatient consultations (OC) to a tertiary neurological center. Methods: We compared the number of ED visits with the social mobility overtime. We also compared the number of OC, and the geographic distribution of patients' addresses between 2019 and 2020. Results: ED visits decreased 48.33% (n = 14,697 in 2019 vs. n = 7,595 in 2020). At the beginning of the lockdown, the social mobility decreased in pharmacies/groceries, and workplaces, along with a reduction in the number of ED visits. With the easing of lockdown restrictions, the social mobility decreased in residential places, slightly increased in workplaces and almost return to normal in pharmacies/groceries. Variations in ED visits correlate better with social mobility in workplaces (coef. =0.75, p < 0.001) than in groceries/pharmacies (coef. =0.68, p < 0.001). OC decreased 43%. Fourteen percent of OC were tele consults. This was associated with an increase of the geographical area of influence of our center (standard distance of 109 km in 2019 and 127 km in 2020). Conclusions: Despite an increase in social mobility, the number of ED visits and OC to an Argentinian tertiary neurological center remain worrisomely low. The pandemic catalyzed the introduction of telemedicine in our country. This has also allowed patients from distant zones to gain access to specialized neurological care.

COVID-19 Epidemic in Argentina: Worsening of Behavioral Symptoms in Elderly Subjects With Dementia Living in the Community.

In Argentina, the quality of care that elderly subjects with dementia living in the community received has been deeply affected by COVID-19 epidemic. Our objective was to study to what extend mandatory quarantine imposed due to COVID-19 had affected behavioral symptoms in subjects with dementia after the first 8 weeks of quarantine. We invited family members to participate in a questionnaire survey. The sample consisted of family caregivers (n = 119) of persons with AD or related dementia living at home. We designed a visual analog scale to test the level of the burden of care of family members. Items inquired in the survey included type and setting (home or day care center) of rehabilitation services (physical/occupational/cognitive rehabilitation) and change in psychotropic medication and in behavioral symptoms that subjects with dementia experienced before and during the epidemic. Characteristics of people with dementia and their caregivers were analyzed with descriptive statistics using the chi-square tests, p < 0.01 was considered significant. Results: The sample included older adults with dementia. Mean age: 81.16 (±7.03), 35% of the subjects had more than 85 years of age. Diagnosess were 67% Alzheimer´s dementia and 26% mixed Alzheimer´s disease (AD). Stages were 34.5% mild cases, 32% intermediate stage, and 33% severe cases as per Clinical dementia Rating score. In 67% of the sample, a family member was the main caregiver. Important findings were increased anxiety (43% of the sample), insomnia (28% of the subjects), depression (29%), worsening gait disturbance (41%), and increase use of psychotropics to control behavioral symptoms. When we compared the frequency of behavioral symptoms within each dementia group category, we found that anxiety, depression, and insomnia were more prevalent in subjects with mild dementia compared to subjects with severe dementia. We analyzed the type and pattern of use of rehabilitation services before and during the isolation period, and we observed that, as a rule, rehabilitation services had been discontinued in most subjects due to the quarantine. We concluded from our analysis that during COVID-19 epidemic there was a deterioration of behavioral symptoms in our population of elderly dementia subjects living in the community. Perhaps, our findings are related to a combination of social isolation, lack of outpatient rehabilitation services, and increased stress of family caregivers. It is necessary to develop a plan of action to help dementia subjects deal with the increased stress that this epidemic imposed on them.

Psychological distress associated with COVID-19 quarantine: Latent profile analysis, outcome prediction and mediation analysis.

BACKGROUND: Mental health of the population during COVID-19 quarantine could be at risk. Previous studies in short quarantines, found mood-related and anxiety symptomatology. Here we aimed to characterize the subtypes of psychological distress associated with quarantine, assess its prevalence, explore risk/protective factors, and possible mechanisms. METHODS: Online cross-sectional data (n = 4408) was collected during the Argentine quarantine, between 1st-17th April 2020 along a small replication study (n = 644). Psychological distress clusters were determined using latent profile analysis on a wide-range of symptoms using the complete Brief-Symptom Inventory-53. Multinomial and Elastic-net regression were performed to identify risk/protective factors among trait-measures (Personality and Resilience) and state-measures (COVID-19 related fear and coping-skills). RESULTS: Three latent-classes defined by symptom severity level were identified. The majority of individuals were classified in the mild (40.9%) and severe classes (41.0%). Participants reported elevated symptoms of Phobic-Anxiety (41.3%), Anxiety (31.8%), Depression (27.5%), General-Distress (27.1%), Obsession-Compulsion (25.1%) and Hostility (13.7%). Logistic-regressions analyses mainly revealed that women, young individuals, having a previous psychiatric diagnosis or trauma, having high levels of trait-neuroticism and COVID-related fear, were those at greater risk of psychological distress. In contrast, adults, being married, exercising, having upper-class income, having high levels of trait-resilience and coping-skills, were the most protected. Mediation analysis, showed that state-measures mediated the association between trait-measures and class-membership. CONCLUSIONS: Quarantine was associated intense psychological distress. Attention should be given to COVID-19-related fear and coping-skills as they act as potential mediators in emotional suffering during quarantine.

Living with dementia: increased level of caregiver stress in times of COVID-19.

COVID-19 pandemic in Argentina has affected the care of older adults with dementia deeply. Our objective was to study how the obligatory social isolation affected stress caregiver and burden of care of family members of subjects living with dementia in the community after the initial 4 weeks of quarantine in our setting. We did a questionnaire survey among 80 family caregivers of persons with Alzheimer's disease (AD) or related dementia collected on April 2020. We designed a visual analog scale to test the level of the burden of care. Characteristics of people with dementia and their caregivers were analyzed with descriptive (mean, standard deviation, frequency and percent) and inferential statistics (chi-square test). The sample included older adults (mean age: 80.51 ± 7.65) with different stages of dementia. Family was the primary provider of care in 65%. Overall, COVID-19 confinement increased stress caregiver independently of the dementia stage, but those caring for severe cases had more stress compared to milder forms of the disease. Other findings were that half of the subjects with dementia experienced increased anxiety and that most family members discontinued all sort of cognitive and physical therapies. Family members' main concerns were for severe dementia cases, fear of absence of the paid caregiver during the epidemic, and for mild cases fear of spreading the disease while assisting patients with instrumental activities. A partnership between departments of public health, care workers and families must be planned to guarantee continuity of care during these unique COVID-19 times.

Prognostic value of ATN Alzheimer biomarkers: 60-month follow-up results from the Argentine Alzheimer's Disease Neuroimaging Initiative.

PURPOSE: To describe results of the Amyloid, Tau, Neurodegeneration (ATN) research framework classification in the Argentine-Alzheimer's Disease Neuroimaging Initiative (arg-ADNI) cohort. METHODS: Twenty-three patients with mild cognitive impairment (MCI), 12 dementia of Alzheimer's type (DAT), and 14 normal controls were studied following the ADNI2 protocol. Patients were categorized according to presence or absence of the biomarkers for amyloid beta (Aß; A: amyloid positron emission tomography [PET] scan or cerebrospinal fluid [CSF] Aß42), tau (T: CSF phosphorylated-tau), and neurodegeneration (N: CSF total-tau, fluorodeoxyglucose [FDG]-PET scan, or structural magnetic resonance imaging [MRI] scan). RESULTS: A+T+N+ biomarker profile was identified at baseline in 91% of mild dementia patients, 20% of early MCI patients, 46% of late MCI patients, and 14% of control subjects. Suspected non-AD pathophysiology (SNAP, A-T-N+) was found in 8% of mild dementia, 20% of early MCI, 15% of late MCI, and 7% of control subjects. Conversion rates to dementia after 5-year follow-up were 85% in A+T+N+ MCI patients and 50% in A-T-N+ patients. CONCLUSIONS: We present initial 5-year follow-up results of a regional ADNI based on AD biomarkers and the ATN classification.

A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism.

INTRODUCTION: Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variants has been reported in Parkinson's disease (PD). OBJECTIVE: to report a new PSEN1 mutation characterized by early-onset Parkinsonism (EOPD) without dementia or classical AD biomarkers phenotype. PATIENT AND METHODS: An Argentinian 46 years old woman was diagnosed with EOPD at 35 years old with no family history of neurodegenerative disorders. Her medical history included iron deficiency and anemia since childhood. A brain MRI showed moderate frontal atrophy. 18FDG-PET and PiB-PET as well as CSF biomarkers were inconclusive for AD. Two neuropsychological examinations were compatible with a mild non amnestic cognitive impairment. Whole blood DNA was extracted and whole exome sequencing and analysis was performed. RESULTS AND CONCLUSION: A heterozygous novel missense PSEN1 mutation (position 14:73637540, A > T, pArg41Ser) was identified as a likely causative mutation in this patient. To the best of our knowledge, this case is the first PSEN1 mutation with a l-dopa responsive Parkinsonism lacking distinctive classical AD biomarkers. This case opens a new window to explore the pathophysiological link among PSEN1 and EOPDs and contributes to increase the phenotypes of PSEN1 variants.

[Multidisciplinary rehabilitation for adult patients with stroke]. / Rehabilitación multidisciplinaria para pacientes adultos con accidente cerebrovascular.

It is estimated that two thirds of people who have suffered a stroke have sequels that condition their quality of life. The rehabilitation of the stroke is a complex process, which requires the multidisciplinary approach of specialized professionals (doctors, kinesiologists, nurses, occupational therapists, phonoaudiologists, neuropsychologists and nutritionists). Currently, the practices carried out are a consequence of the combination of evidence and consensus, most of them through international stroke rehabilitation guides. The objective of this review is to adjust the international recommendations on stroke rehabilitation to what is applied to daily practice, in order to unify the criteria of the recommendations and to reduce the variability of the practices carried out. This work is a review of the literature on stroke rehabilitation guides developed in the last 10 years. Each section was supervised by different professionals specialized in these areas. We analyze the time and organization necessary to develop rehabilitation, recommendations for motor, cognitive and visual rehabilitation, the management of dysphagia and nutrition, the approach of comorbidities (venous thrombosis, skin ulcers, pain, psychiatric disorders and osteoporosis) and the necessary tasks to favor the return to the activities of daily life.

Se estima que dos tercios de las personas que han sufrido un accidente cerebrovascular (ACV) tienen secuelas que condicionan su calidad de vida. La rehabilitación del ACV es un proceso complejo, que requiere de un equipo multidisciplinario de profesionales especializados (médicos, kinesiólogos, enfermeros, terapistas ocupacionales, fonoaudiólogos, neuropsicólogos y nutricionistas). Actualmente, las prácticas realizadas en rehabilitación son consecuencia de la combinación de evidencia y consenso, siendo la mayoría aportadas a través de guías internacionales de rehabilitación en ACV. El objetivo de esta revisión es ajustar las recomendaciones internacionales sobre rehabilitación a lo aplicado a la práctica diaria, a fin de unificar criterios en las recomendaciones y reducir la variabilidad de las prácticas empleadas. En este trabajo, se realizó una revisión de la literatura sobre las guías de rehabilitación en ACV realizadas en los últimos 10 años y cada apartado fue supervisado por distintos profesionales especializados en dichas áreas. Se analizaron los tiempos y organización necesaria para desarrollarla, las recomendaciones para la rehabilitación motora, cognitiva y visual, el tratamiento de la disfagia y nutrición, de las comorbilidades (trombosis venosa, úlceras cutáneas, dolor, trastornos psiquiátricos, osteoporosis) y las tareas necesarias para favorecer el retorno a las actividades de la vida diaria.