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BACKGROUND: Identifying hereditary parkinsonism is valuable for diagnosis, genetic counseling, patient prioritization in trials, and studying the disease for personalized therapies. However, most studies were conducted in Europeans, and limited data exist on admixed populations like those from Latin America. OBJECTIVES: This study aims to assess the frequency and distribution of genetic parkinsonism in Latin America. METHODS: We conducted a systematic review and meta-analysis of the frequency of parkinsonian syndromes associated with genetic pathogenic variants in Latin America. We defined hereditary parkinsonism as those caused by the genes outlined by the MDS Nomenclature of Genetic Movement Disorders and heterozygous carriers of GBA1 pathogenic variants. A systematic search was conducted in PubMed, Web of Science, Embase, and LILACS in August 2022. Researchers reviewed titles and abstracts, and disagreements were resolved by a third researcher. After this screening, five researchers reanalyzed the selection criteria and extracted information based on the full paper. The frequency for each parkinsonism-related gene was determined by the presence of pathogenic/likely pathogenic variants among screened patients. Cochran's Q and I2 tests were used to quantify heterogeneity. Meta-regression, publication bias tests, and sensitivity analysis regarding study quality were also used for LRRK2-, PRKN-, and GBA1-related papers. RESULTS: We included 73 studies involving 3014 screened studies from 16 countries. Among 7668 Latin American patients, pathogenic variants were found in 19 different genes. The frequency of the pathogenic variants in LRRK2 was 1.38% (95% confidence interval [CI]: 0.52-2.57), PRKN was 1.16% (95% CI: 0.08-3.05), and GBA1 was 4.17% (95% CI: 2.57-6.08). For all meta-analysis, heterogeneity was high and publication bias tests were negative, except for PRKN, which was contradictory. Information on the number of pathogenic variants in the other genes is further presented in the text. CONCLUSIONS: This study provides insights into hereditary and GBA1-related parkinsonism in Latin America. Lower GBA1 frequencies compared to European/North American cohorts may result from limited access to gene sequencing. Further research is vital for regional prevalence understanding, enabling personalized care and therapies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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Objective: This study aims to address disparities in risk prediction by evaluating the performance of polygenic risk score (PRS) models using the 90 risk variants across 78 independent loci previously linked to Parkinson's disease (PD) risk across seven diverse ancestry populations. Methods: We conducted a multi-stage study, testing PRS models in predicting PD status across seven different ancestries applying three approaches: 1) PRS adjusted by gender and age; 2) PRS adjusted by gender, age and principal components (PCs); and 3) PRS adjusted by gender, age and percentage of population admixture. These models were built using the largest four population-specific summary statistics of PD risk to date (base data) and individual level data obtained from the Global Parkinson's Genetics Program (target data). We performed power calculations to estimate the minimum sample size required to conduct these analyses. A total of 91 PRS models were developed to investigate cumulative known genetic variation associated with PD risk and age of onset in a global context. Results: We observed marked heterogeneity in risk estimates across non-European ancestries, including East Asians, Central Asians, Latino/Admixed Americans, Africans, African admixed, and Ashkenazi Jewish populations. Risk allele patterns for the 90 risk variants yielded significant differences in directionality, frequency, and magnitude of effect. PRS did not improve in performance when predicting disease status using similar base and target data across multiple ancestries, demonstrating that cumulative PRS models based on current known risk are inherently biased towards European populations. We found that PRS models adjusted by percentage of admixture outperformed models that adjusted for conventional PCs in highly admixed populations. Overall, the clinical utility of our models in individually predicting PD status is limited in concordance with the estimates observed in European populations. Interpretation: This study represents the first comprehensive assessment of how PRS models predict PD risk and age at onset in a multi-ancestry fashion. Given the heterogeneity and distinct genetic architecture of PD across different populations, our assessment emphasizes the need for larger and diverse study cohorts of individual-level target data and well-powered ancestry-specific summary statistics. Our current understanding of PD status unraveled through GWAS in European populations is not generally applicable to other ancestries. Future studies should integrate clinical and *omics level data to enhance the accuracy and predictive power of PRS across diverse populations.

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The prevalence of Parkinson's disease (PD) is growing worldwide and household pesticides exposure may be related to this phenomenon. We showed that individuals with high exposure to household pesticides have two times more risk of developing PD. Household pesticide exposure did not impact age at PD onset.

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Full sequencing of the GBA1 gene in patients with Parkinson's disease provides a wide screening of pathogenic variants, but less developed regions of the world, like Latin America, may have difficulties in performing full sequencing. We performed a systematic review with meta-analysis to explore the prevalence and the odds ratio of specific GBA1 variants in Parkinson's disease in Latin America. We noted a lack of full sequencing GBA1 studies in Latin America.

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In adulthood, the ability to digest lactose, the main sugar present in milk of mammals, is a phenotype (lactase persistence) observed in historically herder populations, mainly Northern Europeans, Eastern Africans, and Middle Eastern nomads. As the -13910∗T allele in the MCM6 gene is the most well-characterized allele responsible for the lactase persistence phenotype, the -13910C > T (rs4988235) polymorphism is commonly evaluated in lactase persistence studies. Lactase non-persistent adults may develop symptoms of lactose intolerance when consuming dairy products. In the Americas, there is no evidence of the consumption of these products until the arrival of Europeans. However, several American countries' dietary guidelines recommend consuming dairy for adequate human nutrition and health promotion. Considering the extensive use of dairy and the complex ancestry of Pan-American admixed populations, we studied the distribution of -13910C > T lactase persistence genotypes and its flanking haplotypes of European origin in 7,428 individuals from several Pan-American admixed populations. We found that the -13910∗T allele frequency in Pan-American admixed populations is directly correlated with allele frequency of the European sources. Moreover, we did not observe any overrepresentation of European haplotypes in the -13910C > T flanking region, suggesting no selective pressure after admixture in the Americas. Finally, considering the dominant effect of the -13910∗T allele, our results indicate that Pan-American admixed populations are likely to have higher frequency of lactose intolerance, suggesting that general dietary guidelines deserve further evaluation across the continent.

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BACKGROUND: Increasing numbers of mutations causing monogenic forms of Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific genetic profile of Brazilian patients is essential for improving genetic counseling and for selecting patients for clinical trials. OBJECTIVE: We conducted a systematic review to identify genetic studies on Brazilian patients and to set a background for future studies on monogenic forms of PD in Brazil. METHODS: We searched MEDLINE, EMBASE and Web of Science from inception to December 2019 using terms for "Parkinson's disease", "genetics" and "Brazil". Two independent reviewers extracted the data. For the genes LRRK2 and PRKN, the estimated prevalence was calculated for each study, and a meta-analysis was performed. RESULTS: A total of 32 studies were included, comprising 94 Brazilian patients with PD with a causative mutation, identified from among 2,872 screened patients (3.2%). PRKN mutations were causative of PD in 48 patients out of 576 (8.3%). LRRK2 mutations were identified in 40 out of 1,556 patients (2.5%), and p.G2019S was the most common mutation (2.2%). CONCLUSIONS: PRKN is the most common autosomal recessive cause of PD, and LRRK2 is the most common autosomal dominant form. We observed that there was a lack of robust epidemiological studies on PD genetics in Brazil and, especially, that the diversity of Brazil's population had not been considered.

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OBJECTIVE: This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, and to increase the diversity in PD genome-wide association (GWAS) data. METHODS: We genotyped and imputed 1,497 PD cases and controls recruited from nine clinical sites across South America. We performed a GWAS using logistic mixed models; variants with a p-value <1 × 10-5 were tested in a replication cohort of 1,234 self-reported Latino PD cases and 439,522 Latino controls from 23andMe, Inc. We also performed an admixture mapping analysis where local ancestry blocks were tested for association with PD status. RESULTS: One locus, SNCA, achieved genome-wide significance (p-value <5 × 10-8 ); rs356182 achieved genome-wide significance in both the discovery and the replication cohorts (discovery, G allele: 1.58 OR, 95% CI 1.35-1.86, p-value 2.48 × 10-8 ; 23andMe, G allele: 1.26 OR, 95% CI 1.16-1.37, p-value 4.55 × 10-8 ). In our admixture mapping analysis, a locus on chromosome 14, containing the gene STXBP6, achieved significance in a joint test of ancestries and in the Native American single-ancestry test (p-value <5 × 10-5 ). A second locus on chromosome 6, containing the gene RPS6KA2, achieved significance in the African single-ancestry test (p-value <5 × 10-5 ). INTERPRETATION: This study demonstrated the importance of the SNCA locus for the etiology of PD in Latinos. By leveraging the demographic history of our cohort via admixture mapping, we identified two potential PD risk loci that merit further study. ANN NEUROL 2021;90:353-365.

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Across Latin American and Caribbean countries (LACs), the fight against dementia faces pressing challenges, such as heterogeneity, diversity, political instability, and socioeconomic disparities. These can be addressed more effectively in a collaborative setting that fosters open exchange of knowledge. In this work, the Latin American and Caribbean Consortium on Dementia (LAC-CD) proposes an agenda for integration to deliver a Knowledge to Action Framework (KtAF). First, we summarize evidence-based strategies (epidemiology, genetics, biomarkers, clinical trials, nonpharmacological interventions, networking, and translational research) and align them to current global strategies to translate regional knowledge into transformative actions. Then we characterize key sources of complexity (genetic isolates, admixture in populations, environmental factors, and barriers to effective interventions), map them to the above challenges, and provide the basic mosaics of knowledge toward a KtAF. Finally, we describe strategies supporting the knowledge creation stage that underpins the translational impact of KtAF.

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BACKGROUND: There are currently no methods to predict the development of levodopa-induced dyskinesia (LID), a frequent complication of Parkinson's disease (PD) treatment. Clinical predictors and single nucleotide polymorphisms (SNP) have been associated to LID in PD. OBJECTIVE: To investigate the association of clinical and genetic variables with LID and to develop a diagnostic prediction model for LID in PD. METHODS: We studied 430 PD patients using levodopa. The presence of LID was defined as an MDS-UPDRS Part IV score ≥1 on item 4.1. We tested the association between specific clinical variables and seven SNPs and the development of LID, using logistic regression models. RESULTS: Regarding clinical variables, age of PD onset, disease duration, initial motor symptom and use of dopaminergic agonists were associated to LID. Only CC genotype of ADORA2A rs2298383 SNP was associated to LID after adjustment. We developed two diagnostic prediction models with reasonable accuracy, but we suggest that the clinical prediction model be used. This prediction model has an area under the curve of 0.817 (95% confidence interval [95%CI] 0.77‒0.85) and no significant lack of fit (Hosmer-Lemeshow goodness-of-fit test p=0.61). CONCLUSION: Predicted probability of LID can be estimated with reasonable accuracy using a diagnostic clinical prediction model which combines age of PD onset, disease duration, initial motor symptom and use of dopaminergic agonists.

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Abstract Background: There are currently no methods to predict the development of levodopa-induced dyskinesia (LID), a frequent complication of Parkinson's disease (PD) treatment. Clinical predictors and single nucleotide polymorphisms (SNP) have been associated to LID in PD. Objective: To investigate the association of clinical and genetic variables with LID and to develop a diagnostic prediction model for LID in PD. Methods: We studied 430 PD patients using levodopa. The presence of LID was defined as an MDS-UPDRS Part IV score ≥1 on item 4.1. We tested the association between specific clinical variables and seven SNPs and the development of LID, using logistic regression models. Results: Regarding clinical variables, age of PD onset, disease duration, initial motor symptom and use of dopaminergic agonists were associated to LID. Only CC genotype of ADORA2A rs2298383 SNP was associated to LID after adjustment. We developed two diagnostic prediction models with reasonable accuracy, but we suggest that the clinical prediction model be used. This prediction model has an area under the curve of 0.817 (95% confidence interval [95%CI] 0.77‒0.85) and no significant lack of fit (Hosmer-Lemeshow goodness-of-fit test p=0.61). Conclusion: Predicted probability of LID can be estimated with reasonable accuracy using a diagnostic clinical prediction model which combines age of PD onset, disease duration, initial motor symptom and use of dopaminergic agonists.

Resumo Introdução: No momento, não há métodos para se predizer o desenvolvimento de discinesias induzidas por levodopa (DIL), uma frequente complicação do tratamento da doença de Parkinson (DP). Preditores clínicos e polimorfismos de nucleotídeo único (SNP) têm sido associados às DIL na DP. Objetivo: Investigar a associação entre variáveis clínicas e genéticas com as DIL e desenvolver um modelo de predição diagnóstica de DIL na DP. Métodos: Foram avaliados 430 pacientes com DP em uso de levodopa. A presença de DIL foi definida como escore ≥1 no item 4.1 da MDS-UPDRS Parte IV. Nós testamos a associação entre variáveis clínicas específicas e sete SNPs com o desenvolvimento de DIL, usando modelos de regressão logística. Resultados: Em relação às variáveis clínicas, idade de início da doença, duração da doença, sintomas motores iniciais e uso de agonistas dopaminérgicos estiveram associados às DIL. Apenas o genótipo CC do SNP rs2298383 no gene ADORA2A esteve associado com DIL após o ajuste. Nós desenvolvemos dois modelos preditivos diagnósticos com acurácia razoável, mas sugerimos o uso do modelo preditivo clínico. Esse modelo de predição tem uma área sob a curva de 0,817 (intervalo de confiança de 95% [IC95%] 0,77‒0,85) e sem perda significativa de ajuste (teste de qualidade de ajuste de Hosmer-Lemeshow p=0,61). Conclusão: A probabilidade prevista de DIL pode ser estimada, com acurácia razoável, por meio do uso de um modelo preditivo diagnóstico clínico, que combina a idade de início da doença, duração da doença, sintomas motores iniciais e uso de agonistas dopaminérgicos.

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Age-related cognitive decline (ACD) is the gradual process of decreasing of cognitive function over age. Most genetic risk factors for ACD have been identified in European populations and there are no reports in admixed Latin American individuals. We performed admixture mapping, genome-wide association analysis (GWAS), and fine-mapping to examine genetic factors associated with 15-year cognitive trajectory in 1,407 Brazilian older adults, comprising 14,956 Mini-Mental State Examination measures. Participants were enrolled as part of the Bambuí-Epigen Cohort Study of Aging. Our admixture mapping analysis identified a genomic region (3p24.2) in which increased Native American ancestry was significantly associated with faster ACD. Fine-mapping of this region identified a single nucleotide polymorphism (SNP) rs142380904 (ß = -0.044, SE = 0.01, p = 7.5 × 10-5) associated with ACD. In addition, our GWAS identified 24 associated SNPs, most in genes previously reported to influence cognitive function. The top six associated SNPs accounted for 18.5% of the ACD variance in our data. Furthermore, our longitudinal study replicated previous GWAS hits for cognitive decline and Alzheimer's disease. Our 15-year longitudinal study identified both ancestry-specific and cosmopolitan genetic variants associated with ACD in Brazilians, highlighting the need for more trans-ancestry genomic studies, especially in underrepresented ethnic groups.

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BACKGROUND: Mutations in the glucocerebrosidase (GBA) gene are an important risk factor for Parkinson's disease (PD). However, most GBA genetic studies in PD have been performed in patients of European origin and very few data are available in other populations. METHODS: We sequenced the entire GBA coding region in 602 PD patients and 319 controls from Colombia and Peru enrolled as part of the Latin American Research Consortium on the Genetics of Parkinson's disease (LARGE-PD). RESULTS: We observed a significantly higher proportion of GBA mutation carriers in patients compared to healthy controls (5.5% vs 1.6%; OR = 4.3, p = 0.004). Interestingly, the frequency of mutations in Colombian patients (9.9%) was more than two-fold greater than in Peruvian patients (4.2%) and other European-derived populations reported in the literature (4-5%). This was primarily due to the presence of a population-specific mutation (p.K198E) found only in the Colombian cohort. We also observed that the age at onset was significantly earlier in GBA carriers when compared to non-carriers (47.1 ±â€¯14.2 y vs. 55.9 ±â€¯14.2 y; p = 0.0004). CONCLUSION: These findings suggest that GBA mutations are strongly associated with PD risk and earlier age at onset in Peru and Colombia. The high frequency of GBA carriers among Colombian PD patients (∼10%) makes this population especially well-suited for novel therapeutic approaches that target GBA-related PD.

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[This corrects the article DOI: 10.1038/s41531-017-0020-6.].

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Mutations in Leucine-Rich Repeat Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson's disease in European-derived populations. However, little is known about the frequency of these mutations in Latin American populations. In addition, a prior study suggested that a LRRK2 polymorphism (p.Q1111H) specific to Latino and Amerindian populations might be a risk factor for Parkinson's disease, but this finding requires replication. We screened 1734 Parkinson's disease patients and 1097 controls enrolled in the Latin American Research Consortium on the Genetics of Parkinson's disease (LARGE-PD), which includes sites in Argentina, Brazil, Colombia, Ecuador, Peru, and Uruguay. Genotypes were determined by TaqMan assay (p.G2019S and p.Q1111H) or by sequencing of exon 31 (p.R1441C/G/H/S). Admixture proportion was determined using a panel of 29 ancestry informative markers. We identified a total of 29 Parkinson's disease patients (1.7%) who carried p.G2019S and the frequency ranged from 0.2% in Peru to 4.2% in Uruguay. Only two Parkinson's disease patients carried p.R1441G and one patient carried p.R1441C. There was no significant difference in the frequency of p.Q1111H in patients (3.8%) compared to controls (3.1%; OR 1.02, p = 0.873). The frequency of LRRK2-p.G2019S varied greatly between different Latin American countries and was directly correlated with the amount of European ancestry observed. p.R1441G is rare in Latin America despite the large genetic contribution made by settlers from Spain, where the mutation is relatively common.

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Frontotemporal lobar degeneration is a neuropathological disorder that causes a variety of clinical syndromes including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal syndrome (CBS). FTD associated with parkinsonism occurs frequently as a result of mutations in the C9orf72 gene and also in the genes coding for the protein associated with microtubule tau (MAPT) and progranulin (GRN) on chromosome 17 (FTDP-17). Herein, we report an Argentinean family, of Basque ancestry, with an extensive family history of behavioral variant of FTD. Twenty-one members over 6 generations composed the pedigree. An extensive neurologic and neurocognitive examination was performed on 2 symptomatic individuals and 3 nonsymptomatic individuals. Two different phenotypes were identified among affected members, CBS in the proband and FTD in his brother. DNA was extracted from blood for these 5 individuals and whole-exome sequencing was performed on 3 of them followed by Sanger sequencing of candidate genes on the other 2. In both affected individuals, a missense mutation (p.P301L; rs63751273) in exon 10 of the MAPT gene (chr17q21.3) was identified. Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS. This is the first report of the occurrence of the p.P301L-MAPT mutation in South America and supports the marked phenotypic heterogeneity among members of the same family as previously reported.

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ABSTRACT Background: The Montreal Cognitive Assessment (MoCA) is a short global cognitive scale, and some studies suggest it is useful for evaluating cognition in patients with Parkinson's disease (PD). However, its accuracy has been questioned in studies involving patients with low education. Objective: We sought to assess whether some of the MoCA subtests contribute to the low accuracy of the test. Methods: We performed a cross-sectional retrospective analysis of clinical data in a cohort of 71 patients with PD, most with less than 8 years of education. Patients were examined using the MDS-UPDRS, Hoehn and Yahr and the MoCA. The data were analyzed using mainly descriptive statistics. Results: We analyzed the data of 66 patients that were not demented according to the clinical evaluation and classified them using the proposed cut-off MoCA scores for diagnosis of MCI and dementia. Thirteen patients (19.7%) were classified as having normal cognition, 24 (36.3%) MCI and 29 (43.9%) dementia. Patients with dementia had longer disease duration (p=0.016) and lower education (p=0.0001). Total MoCA scores had a an almost normal distribution with a wide range of scores and only one maximum score. Performance on the MoCA was highly correlated with education (correlation coefficient=0.66, p=0.0001). At least five of the 10 MoCA subtests showed significant floor effects. Conclusion: We believe that some of the MoCA subtests may be too difficult to be completed by PD patients with low educational level, thus contributing to the test's poor diagnostic accuracy.

RESUMO Embasamento: A MoCA é uma escala cognitiva global breve, e alguns estudos sugerem que ela seria útil para avaliar a cognição em pacientes com doença de Parkinson (DP). No entanto, sua acurácia foi questionada em estudos em pacientes com baixa escolaridade. Objetivo: Pretendeu-se avaliar se alguns dos subtestes da MoCA poderiam contribuir para a baixa precisão do teste. Métodos: Foi realizada uma análise transversal e retrospectiva de dados clínicos de uma coorte de 71 pacientes com DP, a maioria com menos de 8 anos de escolaridade. Os pacientes foram examinados usando o MDS-UPDRS, a Hoehn e Yahr e a MoCA. Os dados foram principalmente analisados pela estatística descritiva. Resultados: Foram analisados os dados de 66 pacientes que não foram diagnosticados com demência de acordo com a avaliação clínica. Eles foram em seguida classificados, usando as notas de corte MoCA propostos para diagnóstico de comprometimento cognitivo leve (CCL) e demência. Dessa forma, treze pacientes (19,7%) foram classificados como com a cognição normal, 24 pacientes (36,3%) com CCL e 29 pacientes (43,9%) como com demência. Os pacientes com demência tiveram maior duração da doença (p=0,016) e menor escolaridade (p=0,0001). A distribuição dos escores totais da MoCA apresentaram forma de distribuição normal com uma vasta gama de pontuações e apenas uma pontuação máxima. O desempenho no MoCA foi altamente correlacionado à escolaridade (coeficiente de correlação=0,66, p=0,0001). Pelo menos cinco dos 10 subtestes da MoCA mostraram efeitos piso significativos. Conclusão: Alguns dos subtestes MoCA podem ser muito difíceis de completar por pacientes com DP com baixa escolaridade, contribuindo assim para a baixa precisão diagnóstica do teste.

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BACKGROUND: The Montreal Cognitive Assessment (MoCA) is a short global cognitive scale, and some studies suggest it is useful for evaluating cognition in patients with Parkinson's disease (PD). However, its accuracy has been questioned in studies involving patients with low education. OBJECTIVE: We sought to assess whether some of the MoCA subtests contribute to the low accuracy of the test. METHODS: We performed a cross-sectional retrospective analysis of clinical data in a cohort of 71 patients with PD, most with less than 8 years of education. Patients were examined using the MDS-UPDRS, Hoehn and Yahr and the MoCA. The data were analyzed using mainly descriptive statistics. RESULTS: We analyzed the data of 66 patients that were not demented according to the clinical evaluation and classified them using the proposed cut-off MoCA scores for diagnosis of MCI and dementia. Thirteen patients (19.7%) were classified as having normal cognition, 24 (36.3%) MCI and 29 (43.9%) dementia. Patients with dementia had longer disease duration (p=0.016) and lower education (p=0.0001). Total MoCA scores had a an almost normal distribution with a wide range of scores and only one maximum score. Performance on the MoCA was highly correlated with education (correlation coefficient=0.66, p=0.0001). At least five of the 10 MoCA subtests showed significant floor effects. CONCLUSION: We believe that some of the MoCA subtests may be too difficult to be completed by PD patients with low educational level, thus contributing to the test's poor diagnostic accuracy.

EMBASAMENTO: A MoCA é uma escala cognitiva global breve, e alguns estudos sugerem que ela seria útil para avaliar a cognição em pacientes com doença de Parkinson (DP). No entanto, sua acurácia foi questionada em estudos em pacientes com baixa escolaridade. OBJETIVO: Pretendeu-se avaliar se alguns dos subtestes da MoCA poderiam contribuir para a baixa precisão do teste. MÉTODOS: Foi realizada uma análise transversal e retrospectiva de dados clínicos de uma coorte de 71 pacientes com DP, a maioria com menos de 8 anos de escolaridade. Os pacientes foram examinados usando o MDS-UPDRS, a Hoehn e Yahr e a MoCA. Os dados foram principalmente analisados pela estatística descritiva. RESULTADOS: Foram analisados os dados de 66 pacientes que não foram diagnosticados com demência de acordo com a avaliação clínica. Eles foram em seguida classificados, usando as notas de corte MoCA propostos para diagnóstico de comprometimento cognitivo leve (CCL) e demência. Dessa forma, treze pacientes (19,7%) foram classificados como com a cognição normal, 24 pacientes (36,3%) com CCL e 29 pacientes (43,9%) como com demência. Os pacientes com demência tiveram maior duração da doença (p=0,016) e menor escolaridade (p=0,0001). A distribuição dos escores totais da MoCA apresentaram forma de distribuição normal com uma vasta gama de pontuações e apenas uma pontuação máxima. O desempenho no MoCA foi altamente correlacionado à escolaridade (coeficiente de correlação=0,66, p=0,0001). Pelo menos cinco dos 10 subtestes da MoCA mostraram efeitos piso significativos. CONCLUSÃO: Alguns dos subtestes MoCA podem ser muito difíceis de completar por pacientes com DP com baixa escolaridade, contribuindo assim para a baixa precisão diagnóstica do teste.

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ABSTRACTObjective The aim of the present study is to examine the accuracy of the Brazilian versions of the Montreal Cognitive Assessment (MoCA) and the Addenbrooke's Cognitive Examination-Revised (ACE-R) to screen for mild cognitive impairment (PDMCI) and dementia (PDD) in patients with Parkinson's disease (PD).Method Both scales were administered to a final convenience sample of 79 patients with PD. Patients were evaluated by a neurologist, a psychiatrist and a neuropsychologist using UPDRS, Hoehn and Yahr and Schwab and England scales, global deterioration scale, a psychiatric structured interview, Mattis Dementia Rating Scale and other cognitive tests.Results There were 32 patients with PDMCI and 17 patients with PDD. The MoCA and the ACE-R were able to discriminate patients with PDD from the others.Conclusion Both scales showed to be useful to screen for dementia but not for mild cognitive impairment in patients with PD.

RESUMOObjetivo O objetivo do estudo foi avaliar a acurácia das versões Brasileiras das escalas: Montreal Cognitive Assessment (MoCA) e Addenbrooke's Cognitive Examination-Revised (ACE-R), no rastreamento de comprometimento cognitivo leve (CCL) e demência em pacientes com doença de Parkinson (DP).Método As duas escalas foram aplicadas a uma amostra de conveniência de 79 pacientes com DP. Os pacientes foram avaliados por um neurologista, um psiquiatra e uma neuropsicóloga que utilizaram a UPDRS, a escala de Hoehn e Yahr, a escala de Schwab e England, a escala de deterioração global, uma entrevista psiquiátrica estruturada, a escala de demência de Mattis e outros testes cognitivos.Resultados 32 pacientes foram diagnosticados com CCL e 17 com demência. A MoCA e o ACE-R foram capazes de discriminar pacientes com demência dos demais.Conclusão As duas escalas se mostraram úteis para rastrear demência, mas não CCL, em pacientes com DP.

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OBJECTIVE: The aim of the present study is to examine the accuracy of the Brazilian versions of the Montreal Cognitive Assessment (MoCA) and the Addenbrooke's Cognitive Examination-Revised (ACE-R) to screen for mild cognitive impairment (PDMCI) and dementia (PDD) in patients with Parkinson's disease (PD). METHOD: Both scales were administered to a final convenience sample of 79 patients with PD. Patients were evaluated by a neurologist, a psychiatrist and a neuropsychologist using UPDRS, Hoehn and Yahr and Schwab and England scales, global deterioration scale, a psychiatric structured interview, Mattis Dementia Rating Scale and other cognitive tests. RESULTS: There were 32 patients with PDMCI and 17 patients with PDD. The MoCA and the ACE-R were able to discriminate patients with PDD from the others. CONCLUSION: Both scales showed to be useful to screen for dementia but not for mild cognitive impairment in patients with PD.

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