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Parkinson's disease (PD) is a common neurodegenerative disease that is a growing public health challenge. Estimates of the burden of PD have focused on data from high-income countries, with lower-income countries poorly described. We reviewed and examined the prevalence of PD reported by studies in low- to upper-middle-income countries. A systematic literature search was performed in the Medline/PubMed, Embase, LILACS, and Web of Science databases. Age group, sex, and geographic region were considered when analyzing the data. Of the 4327 assessed articles, 57 met the inclusion criteria for qualitative review, and 36 were included in the meta-analysis. Heterogeneity measures were high both as a whole and in each geographic region. Data analysis by geographic region showed that reported prevalence differed across regions, ranging from 49 per 100,000 (Sub-Saharan Africa) to 1081 per 100,000 (Latin America and the Caribbean). There was an increasing prevalence of PD with advancing age (per 100,000): 7 in 40-49 years, 158 in 50-59 years, 603 in 60-69 years, 1251 in 70-79 years, and 2181 in over the age of 80. The prevalence of PD in men and women was similar. There was a greater PD prevalence in populations with a higher 5-year GDP per capita and a higher life expectancy. Our findings suggest a higher prevalence of PD in lower and upper-middle-income countries than previously reported. Comparisons between regions are difficult, as the sociocultural differences and lack of methodological standardization hinder understanding key epidemiological data in varied populations.

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Background: In the last decades, the association of household pesticide usage with Parkinson's disease (PD) has been poorly explored, with discordant results. Based on the Parkinson's Progression Markers Initiative (PPMI) cohort study, we analyzed (1) the association of household pesticide exposure with the development of PD and (2) the effect of household pesticides on progression of PD. Methods: Data from participants of the "FOllow Up persons with Neurologic Disease" (FOUND study) included in the PPMI cohort database were analyzed. The PPMI FOUND study applied the Parkinson's Disease Risk Factor Questionnaire to collect information regarding the use of pesticides in non-work settings during periods of life, and the lifetime pesticide exposure for each participant was estimated. We defined a high use of pesticides if the exposure estimate had a z-score higher than one standard deviation from the mean. Also, we evaluated longitudinal data of people with PD to analyze the effect of high use of household pesticides on disease progression according to motor impairment, cognitive dysfunction, depressive symptoms, and modification of motor clinical phenotype. Results: We analyzed data from 206 people with PD and 64 healthy controls, almost all from the USA. High use of household pesticides was not associated with the odds of developing PD. Regarding PD progression, only cognitive dysfunction was associated with the high use of household fungicides (HR 5.64 per standard deviation increase in exposure estimate, 95% CI 1.41-22.6). Conclusions: Chronic exposure to household pesticides may impact the clinical progression of PD, especially cognitive symptoms.

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Atypical parkinsonism (AP) is a group of complex neurodegenerative disorders with marked clinical and pathophysiological heterogeneity. The use of systems biology tools may contribute to the characterization of hub-bottleneck genes, and the identification of its biological pathways to broaden the understanding of the bases of these disorders. A systematic search was performed on the DisGeNET database, which integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature. The tools STRING 11.0 and Cytoscape 3.8.2 were used for analysis of protein-protein interaction (PPI) network. The PPI network topography analyses were performed using the CytoHubba 0.1 plugin for Cytoscape. The hub and bottleneck genes were inserted into 4 different sets on the InteractiveVenn. Additional functional enrichment analyses were performed to identify Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways and gene ontology for a described set of genes. The systematic search in the DisGeNET database identified 485 genes involved with Atypical Parkinsonism. Superimposing these genes, we detected a total of 31 hub-bottleneck genes. Moreover, our functional enrichment analyses demonstrated the involvement of these hub-bottleneck genes in 3 major KEGG pathways. We identified 31 highly interconnected hub-bottleneck genes through a systems biology approach, which may play a key role in the pathogenesis of atypical parkinsonism. The functional enrichment analyses showed that these genes are involved in several biological processes and pathways, such as the glial cell development, glial cell activation and cognition, pathways were related to Alzheimer disease and Parkinson disease. As a hypothesis, we highlight as possible key genes for AP the MAPT (microtubule associated protein tau), APOE (apolipoprotein E), SNCA (synuclein alpha) and APP (amyloid beta precursor protein) genes.

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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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Parkinson's disease (PD) is a common neurodegenerative disease associated with cognitive impairment. The Montreal Cognitive Assessment (MoCA) has been used as a recommended global cognition scale for patients with PD, but there are some concerns about its application, partially due to the floor and ceiling effects. Objective: To explore the floor and ceiling effects on the MoCA in patients with PD in Brazil. Methods: Cross-sectional study with data from patients with PD from five Brazilian Movement Disorders Clinics, excluding individuals with a possible diagnosis of dementia. We analyzed the total score of the MoCA, as well as its seven cognitive domains. The floor and ceiling effects were evaluated for the total MoCA score and domains. Multivariate analyses were performed to detect factors associated with floor and ceiling effects. Results: We evaluated data from 366 patients with PD and approximately 19% of individuals had less than five years of education. For the total MoCA score, there was no floor or ceiling effect. There was a floor effect in the abstraction and delayed memory recall domains in 20% of our sample. The ceiling effect was demonstrated in all domains (80.8% more common in naming and 89% orientation), except delayed recall. Education was the main factor associated with the floor and ceiling effects, independent of region, sex, age at evaluation, and disease duration. Conclusion: The floor and ceiling effects are present in specific domains of the MoCA in Brazil, with a strong impact on education. Further adaptations of the MoCA structure for underrepresented populations may reduce these negative effects.

A doença de Parkinson (DP) é uma doença neurodegenerativa comum associada ao declínio cognitivo. A Avaliação Cognitiva de Montreal (Montreal Cognitive Assessment ­ MoCA) tem sido usada como uma escala de cognição global recomendada para pacientes com DP, mas existem algumas preocupações sobre sua aplicação, em parte pelos efeitos solo e teto. Objetivo: Explorar os efeitos solo e teto na MoCA em pacientes com DP no Brasil. Métodos: Estudo transversal com dados de pacientes com DP oriundos de cinco Clínicas de Distúrbios de Movimento no Brasil, excluindo-se pessoas com possível diagnóstico de demência. Nós analisamos a pontuação total da MoCA, assim como a de seus sete domínios cognitivos. Os efeitos solo e teto foram avaliados para a pontuação total da MoCA e seus domínios. Foram feitas análises multivariadas para a detecção de fatores associados os efeitos solo e teto. Resultados: Nós avaliamos dados de 366 pacientes com DP, e aproximadamente 19% das pessoas tinham menos que cinco anos de escolaridade. Para a pontuação total do MoCA, não houve efeito solo ou teto. Houve efeito solo nos domínios abstração e memória de evocação tardia em 20% de nossa amostra. O efeito teto foi demonstrado em todos os domínios (80,8% mais comum em nomeação e 89% orientação), com exceção de memória de evocação tardia. A educação foi o principal fator associado aos efeitos solo e teto, independentemente de região, sexo, idade na avaliação e duração da doença. Conclusão: Os efeitos solo e teto estão presentes em domínios específicos da MoCA no Brasil, com forte impacto da educação. Adaptações adicionais à estrutura da MoCA para populações vulneráveis podem reduzir esses efeitos negativos.

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INTRODUCTION: With the current demographic transition, it is estimated that by 2050 Brazil will have a population of 90 million people aged 60 years or more, and in parallel Parkinson's disease (PD) will bring a considerable economic burden to our society. Brazil is considered multiracial due to its colonization, generating important social and regional inequalities. Knowing the costs of the PD may aid to improve local public policies. However, in Brazil, no estimates of these values have been made so far. OBJECTIVES: To evaluate direct, indirect, and out-of-pocket costs in Brazilian people with PD (PwP). METHODS: Categorical and numerical data were collected through a customized and standardized cost-related-questionnaire from 1055 PwP nationwide, from 10 tertiary movement disorders centers across all Brazilian regions. RESULTS: The estimated average annual cost of PwP was US$ 4020.48. Direct and indirect costs accounted for 63% and 36% of the total, respectively, and out-of-pocket costs were 49%. There were no evidence of differences in the total cost of PD across the regions of the country; however, differences were reported between the stages of the Hoehn and Yahr scale (H&Y). CONCLUSION: This data suggests a considerable burden of PD for Brazilian society in general, not only for the public health system, but mainly for those with PD.

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BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease worldwide. Its classic motor symptoms may be preceded by non-motor symptoms (NMS). Population studies have identified GBA variants as risk factors for idiopathic PD. The increased risk of PD has also been suggested in other Lysosomal Storage Disorders (LSDs). OBJECTIVE: To assess the evolution of the prevalence of NMS compatible with PD in a cohort of South Brazilian adult patients with Gaucher Disease (GD) type 1, already evaluated 3 years ago (2018). Cerebrospinal Fluid (CSF) was collected to assess the levels of LSD enzymes (beta-hexosaminidases, beta-glucuronidase) and biomarker of macrophage activation (chitotriosidase, ChT), compared to controls (metachromatic leukodystrophy, MLD). Cognition was evaluated by the Montreal Cognitive Assessment (MoCA) questionnaire, daytime sleepiness by the Epworth Sleepiness Scale (ESS), depression by Beck´s Inventory, constipation by the Unified Multiple System Atrophy Rating Scale (UMSARS) scale, and REM sleep behavior disorder by the single-question screen. Hyposmia was assessed with Sniffin' Sticks (SST). RESULTS: Nineteen patients completed the follow-up (mean age of the sample was 44 years; range, 26-71). The patient with the highest number of NMS at the baseline (4 including the lowest SST score) was diagnosed with PD four years later. Apart from an improvement in the ESS score, no other statistical significance was found between the number of NMS between the first and second evaluation, nor between patients with one L444P variant (n = 5) and the rest of the cohort. CSF was collected in five patients (mean age of the sample was 40 years, range 30-53. A significant difference was found in the mean CSF activity levels of beta-hexosaminidases and beta-glucuronidase between GD1 and MLD patients. Mean ChT (CSF) was 62 nmol/h/mL in GD patients and 142 in MLD (n = 6) patients. CONCLUSIONS: The patient with the highest number of NMS in our 2018 cohort was the one that developed PD, corroborating with the importance of this longitudinal follow-up. CSF and plasma analysis might allow a better understanding of the neurodegenerative processes connecting PD and the lysosomal environment. Further analysis is needed to understand this relationship.

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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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Background: The basal ganglia and cerebellum both have a role in speech production although the effect of isolated involvement of these structures on speech fluency remains unclear. Objective: The study aimed to assess the differences in the articulatory pattern in patients with cerebellar vs. basal ganglia disorders. Methods: A total of 20 individuals with Parkinson's disease (PD), 20 with spinocerebellar ataxia type 3 (SCA3), and 40 controls (control group, CG) were included. Diadochokinesis (DDK) and monolog tasks were collected. Results: The only variable that distinguished SCA3 carriers from the CG was the number of syllables in the monolog, with SCA3 patients of a significantly lower number. For patients with PD, the number of syllables, phonation time, DDK, and monolog were significantly lower than for CG. Patients with PD were significantly worse compared to patients with SCA3 in the number of syllables and phonation time in DDK, and phonation time in monolog. Additionally, there was a significant correlation between the number of syllables in the monolog and the MDS-UPDRS III for participants with PD, and the Friedreich Ataxia Rating Scale for participants with SCA3 suggesting a relationship between speech and general motor functioning. Conclusion: The monolog task is better at discriminating individuals with cerebellar vs. Parkinson's diseases as well as differentiating healthy control and was related to the severity of the disease.

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BACKGROUND: Performing motor evaluations using videoconferencing for patients with Parkinson's disease (PD) is safe and feasible. However, the feasibility of these evaluations is not adequately studied in resource-limited settings. OBJECTIVE: To evaluate the feasibility of performing motor evaluations for patients with PD in a resource-limited setting. METHODS: The examiners rated motor aspects of parkinsonism of 34 patients with PD from the Brazilian public healthcare system through telemedicine with the patient's own means by using the Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) rating scale. Quality measures of the video meeting were also obtained. The feasibility of rating the motor aspects was the primary outcome whereas the rating of individual motor aspects, video meeting quality and predictors of a complete evaluation served as secondary outcomes. RESULTS: The least assessable parameters were freezing of gait (52.9%), gait (70.6%), leg agility, and rest tremor (both 76.5%). Complete MDS-UPDRS part III was possible in 41.2% of patients and 62 out of 374 motor aspects evaluated (16.6%) were missed. Available physical space for a video evaluation was the worst quality measure. Incomplete evaluations were directly associated with disability (p = 0.048, r = 0.34) and inversely with available physical space (p = 0.003, r = 0.55). CONCLUSION: A significant portion of the MDS-UPDRS part III is unable to be performed during telemedicine-based evaluations in a real-life scenario of a resource-limited setting.

ANTECEDENTES: Realizar avaliações motoras usando videoconferência para pacientes com doença de Parkinson (DP) é seguro e viável. Entretanto, a viabilidade dessas avaliações não é adequadamente estudada em cenários com recursos limitados. OBJETIVO: Identificar a viabilidade de realizar avaliações motoras para pacientes com DP em um ambiente com recursos limitados. MéTODOS: Os examinadores avaliaram os aspectos motores da DP de 34 pacientes do sistema público de saúde brasileiro através da telemedicina com os próprios meios do paciente usando a escala Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS). Medidas de qualidade da videochamada também foram obtidas. A viabilidade da classificação dos aspectos motores foi o resultado primário, enquanto a classificação dos aspectos motores individuais, a qualidade das videoconferências e os preditores de uma avaliação completa serviram como resultados secundários. RESULTADOS: Os parâmetros menos avaliáveis foram congelamento da marcha (52,9%), marcha (70,6%), agilidade dos membros inferiores e tremor de repouso (ambos 76,5%). A parte III completa da MDS-UPDRS foi possível em 41,2% dos pacientes, mas não foi possível avaliar 62 do total de 374 aspectos motores (16,6%). O espaço físico disponível para uma avaliação em vídeo foi a pior medida de qualidade. As avaliações incompletas foram diretamente associadas ao nível de dependência (p = 0,048, r = 0,34) e inversamente ao espaço físico disponível (p = 0,003, r = 0,55). CONCLUSãO: Uma porção significativa da parte III da MDS-UPDRS é perdida durante as avaliações baseadas em telemedicina em um cenário da vida real com recursos limitados.

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Abstract Background Performing motor evaluations using videoconferencing for patients with Parkinson's disease (PD) is safe and feasible. However, the feasibility of these evaluations is not adequately studied in resource-limited settings. Objective To evaluate the feasibility of performing motor evaluations for patients with PD in a resource-limited setting. Methods The examiners rated motor aspects of parkinsonism of 34 patients with PD from the Brazilian public healthcare system through telemedicine with the patient's own means by using the Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) rating scale. Quality measures of the video meeting were also obtained. The feasibility of rating the motor aspects was the primary outcome whereas the rating of individual motor aspects, video meeting quality and predictors of a complete evaluation served as secondary outcomes. Results The least assessable parameters were freezing of gait (52.9%), gait (70.6%), leg agility, and rest tremor (both 76.5%). Complete MDS-UPDRS part III was possible in 41.2% of patients and 62 out of 374 motor aspects evaluated (16.6%) were missed. Available physical space for a video evaluation was the worst quality measure. Incomplete evaluations were directly associated with disability (p = 0.048, r = 0.34) and inversely with available physical space (p = 0.003, r = 0.55). Conclusion A significant portion of the MDS-UPDRS part III is unable to be performed during telemedicine-based evaluations in a real-life scenario of a resource-limited setting.

Resumo Antecedentes Realizar avaliações motoras usando videoconferência para pacientes com doença de Parkinson (DP) é seguro e viável. Entretanto, a viabilidade dessas avaliações não é adequadamente estudada em cenários com recursos limitados. Objetivo Identificar a viabilidade de realizar avaliações motoras para pacientes com DP em um ambiente com recursos limitados. Métodos Os examinadores avaliaram os aspectos motores da DP de 34 pacientes do sistema público de saúde brasileiro através da telemedicina com os próprios meios do paciente usando a escala Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS). Medidas de qualidade da videochamada também foram obtidas. A viabilidade da classificação dos aspectos motores foi o resultado primário, enquanto a classificação dos aspectos motores individuais, a qualidade das videoconferências e os preditores de uma avaliação completa serviram como resultados secundários. Resultados Os parâmetros menos avaliáveis foram congelamento da marcha (52,9%), marcha (70,6%), agilidade dos membros inferiores e tremor de repouso (ambos 76,5%). A parte III completa da MDS-UPDRS foi possível em 41,2% dos pacientes, mas não foi possível avaliar 62 do total de 374 aspectos motores (16,6%). O espaço físico disponível para uma avaliação em vídeo foi a pior medida de qualidade. As avaliações incompletas foram diretamente associadas ao nível de dependência (p = 0,048, r = 0,34) e inversamente ao espaço físico disponível (p = 0,003, r = 0,55). Conclusão Uma porção significativa da parte III da MDS-UPDRS é perdida durante as avaliações baseadas em telemedicina em um cenário da vida real com recursos limitados.

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BACKGROUND: Levodopa is the most used and effective medication for motor symptoms of Parkinson disease (PD), its long-term use is associated with the appearance of levodopa-induced dyskinesia (LID). Uric acid (UA) is believed to play an important neuroprotective role in PD. OBJECTIVE: To investigate if serum UA levels are related with the presence of LIDs in PD patients. Also, we investigated the associations among UA levels and clinical features of PD. METHODS: We enrolled 81 PD patients (dyskinesia = 48; no dyskinesia = 33) in the present study. A blood sample was collected to evaluate serum UA levels, clinical evaluation included the following instruments: Montreal Cognitive Assessment (MoCA), Beck Depression Inventory II (BDI-II), MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Hoehn and Yahr (HY), and the sub-item 4.1 of MDS-UPDRS IV (score ≥ 1). Additional relevant clinical information was obtained by a clinical questionnaire. RESULTS: Serum UA levels were lower in the dyskinesia group when compared with the no dyskinesia group. The same result was found in the UA levels of both men and women. The multivariate analysis showed lower uric acid levels were significantly associated with having dyskinesia (odds ratio [OR] = 0.424; 95% confidence interval [CI]: 0.221-0.746; p = 0.005). Additional analysis verified that serum UA levels are inversely correlated with depressive symptoms, disease duration, MDS-UPDRS IV and time spent with dyskinesia. A positive correlation was found with age at onset of PD symptoms. CONCLUSIONS: The present study provides a possible role of serum UA levels in LID present in PD patients.

ANTECEDENTES: A levodopa é a medicação mais utilizada e eficaz para os sintomas motores da doença de Parkinson (DP); seu uso a longo prazo está associado ao aparecimento de discinesia induzida por levodopa (LID). Acredita-se que o ácido úrico desempenhe um importante papel neuroprotetor na DP. OBJETIVO: Investigar se os níveis séricos de AU estão relacionados com a presença de LID em pacientes com DP. Além disso, investigamos as associações entre os níveis de AU e as características clínicas da DP. MéTODOS: Foram incluídos 81 pacientes com DP (discinesia = 48; sem discinesia = 33) no presente estudo. Uma amostra de sangue foi coletada para avaliar os níveis séricos de AU, a avaliação clínica incluiu os seguintes instrumentos: Avaliação Cognitiva de Montreal (MoCA), Inventário de Depressão de Beck (BDI-II), MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Hoehn and Yahr (HY) e o subitem 4.1 da MDS-UPDRS IV (escore ≥ 1). Informações clínicas relevantes adicionais foram obtidas por meio de um questionário clínico. RESULTADOS: Os níveis séricos de AU foram menores no grupo com discinesia quando comparados ao grupo sem discinesia. O mesmo resultado foi encontrado nos níveis de AU de homens e mulheres. A análise multivariada mostrou que níveis mais baixos de ácido úrico foram significativamente associados a ter discinesia (odds ratio [OR] = 0,424; intervalo de confiança (IC) de 95%: 0,221­0,746; p = 0,005). Análises adicionais verificaram que os níveis séricos de AU estão inversamente correlacionados com sintomas depressivos, duração da doença, MDS-UPDRS IV e tempo gasto com discinesia. Uma correlação positiva foi encontrada com a idade de início dos sintomas da DP. CONCLUSõES: O presente estudo fornece um possível papel dos níveis séricos de AU na LID presente em pacientes com DP.

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Abstract Background Levodopa is the most used and effective medication for motor symptoms of Parkinson disease (PD), its long-term use is associated with the appearance of levodopa-induced dyskinesia (LID). Uric acid (UA) is believed to play an important neuroprotective role in PD. Objective To investigate if serum UA levels are related with the presence of LIDs in PD patients. Also, we investigated the associations among UA levels and clinical features of PD. Methods We enrolled 81 PD patients (dyskinesia = 48; no dyskinesia = 33) in the present study. A blood sample was collected to evaluate serum UA levels, clinical evaluation included the following instruments: Montreal Cognitive Assessment (MoCA), Beck Depression Inventory II (BDI-II), MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Hoehn and Yahr (HY), and the sub-item 4.1 of MDS-UPDRS IV (score ≥ 1). Additional relevant clinical information was obtained by a clinical questionnaire. Results Serum UA levels were lower in the dyskinesia group when compared with the no dyskinesia group. The same result was found in the UA levels of both men and women. The multivariate analysis showed lower uric acid levels were significantly associated with having dyskinesia (odds ratio [OR] = 0.424; 95% confidence interval [CI]: 0.221-0.746; p= 0.005). Additional analysis verified that serum UA levels are inversely correlated with depressive symptoms, disease duration, MDS-UPDRS IV and time spent with dyskinesia. A positive correlation was found with age at onset of PD symptoms. Conclusions The present study provides a possible role of serum UA levels in LID present in PD patients.

Resumo Antecedentes A levodopa é a medicação mais utilizada e eficaz para os sintomas motores da doença de Parkinson (DP); seu uso a longo prazo está associado ao aparecimento de discinesia induzida por levodopa (LID). Acredita-se que o ácido úrico desempenhe um importante papel neuroprotetor na DP. Objetivo Investigar se os níveis séricos de AU estão relacionados com a presença de LID em pacientes com DP. Além disso, investigamos as associações entre os níveis de AU e as características clínicas da DP. Métodos Foram incluídos 81 pacientes com DP (discinesia = 48; sem discinesia = 33) no presente estudo. Uma amostra de sangue foi coletada para avaliar os níveis séricos de AU, a avaliação clínica incluiu os seguintes instrumentos: Avaliação Cognitiva de Montreal (MoCA), Inventário de Depressão de Beck (BDI-II), MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Hoehn and Yahr (HY) e o subitem 4.1 da MDS-UPDRS IV (escore ≥ 1). Informações clínicas relevantes adicionais foram obtidas por meio de um questionário clínico. Resultados Os níveis séricos de AU foram menores no grupo com discinesia quando comparados ao grupo sem discinesia. O mesmo resultado foi encontrado nos níveis de AU de homens e mulheres. A análise multivariada mostrou que níveis mais baixos de ácido úrico foram significativamente associados a ter discinesia (odds ratio [OR] = 0,424; intervalo de confiança (IC) de 95%: 0,221-0,746; p= 0,005). Análises adicionais verificaram que os níveis séricos de AU estão inversamente correlacionados com sintomas depressivos, duração da doença, MDS-UPDRS IV e tempo gasto com discinesia. Uma correlação positiva foi encontrada com a idade de início dos sintomas da DP. Conclusões O presente estudo fornece um possível papel dos níveis séricos de AU na LID presente em pacientes com DP.

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BACKGROUND: Life-space mobility (LSM) is a mobility measure that assesses the physical and social environments through which people move during their daily lives. OBJECTIVE: To characterize LSM among individuals with Parkinson disease and explore the relationship between LSM, self-efficacy, and balance. DESIGN: A cross-sectional study. SETTINGS: Movement disorder clinic at a teaching hospital. PARTICIPANTS: Eighty-eight participants with Parkinson disease. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: The dependent variable (LSM) was assessed using the Life-Space Assessment (LSA) instrument. Balance evaluation and balance self-efficacy were assessed using the Mini Balance Evaluation Systems Test (Mini-BESTest) and the Activities-Specific Balance Confidence Scale, respectively. Other variables, such as age, disease staging (Hoehn-Yahr staging system), cognition (Montreal Cognitive Assessment), and depressive symptoms (Beck Depression Inventory-II), were also measured. RESULTS: The mean LSA score was 65.2 (SD: 22.8) and mean age was 63.2 years (SD: 10.5 years). Among the 88 patients, 32 (36.4%) were classified as restricted LSM. Age (p = .03), disease severity (p = .02), cognition (p = .02), and motor subtype (p = .006) were associated with more restricted LSM among participants. A multiple linear regression model demonstrated that LSM can be predicted by balance performance (R2  = 0.377; p < .001). CONCLUSION: Age, disease severity, cognition, motor subtype, balance self-efficacy, and balance performance are associated with LSM. Understanding and improving balance and self-efficacy in people with Parkinson disease could facilitate community mobility and promote functional independence and health maintenance.

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ABSTRACT Parkinson's disease (PD) is a common neurodegenerative disease associated with cognitive impairment. The Montreal Cognitive Assessment (MoCA) has been used as a recommended global cognition scale for patients with PD, but there are some concerns about its application, partially due to the floor and ceiling effects. Objective: To explore the floor and ceiling effects on the MoCA in patients with PD in Brazil. Methods: Cross-sectional study with data from patients with PD from five Brazilian Movement Disorders Clinics, excluding individuals with a possible diagnosis of dementia. We analyzed the total score of the MoCA, as well as its seven cognitive domains. The floor and ceiling effects were evaluated for the total MoCA score and domains. Multivariate analyses were performed to detect factors associated with floor and ceiling effects. Results: We evaluated data from 366 patients with PD and approximately 19% of individuals had less than five years of education. For the total MoCA score, there was no floor or ceiling effect. There was a floor effect in the abstraction and delayed memory recall domains in 20% of our sample. The ceiling effect was demonstrated in all domains (80.8% more common in naming and 89% orientation), except delayed recall. Education was the main factor associated with the floor and ceiling effects, independent of region, sex, age at evaluation, and disease duration. Conclusion: The floor and ceiling effects are present in specific domains of the MoCA in Brazil, with a strong impact on education. Further adaptations of the MoCA structure for underrepresented populations may reduce these negative effects.

RESUMO A doença de Parkinson (DP) é uma doença neurodegenerativa comum associada ao declínio cognitivo. A Avaliação Cognitiva de Montreal (Montreal Cognitive Assessment — MoCA) tem sido usada como uma escala de cognição global recomendada para pacientes com DP, mas existem algumas preocupações sobre sua aplicação, em parte pelos efeitos solo e teto. Objetivo: Explorar os efeitos solo e teto na MoCA em pacientes com DP no Brasil. Métodos: Estudo transversal com dados de pacientes com DP oriundos de cinco Clínicas de Distúrbios de Movimento no Brasil, excluindo-se pessoas com possível diagnóstico de demência. Nós analisamos a pontuação total da MoCA, assim como a de seus sete domínios cognitivos. Os efeitos solo e teto foram avaliados para a pontuação total da MoCA e seus domínios. Foram feitas análises multivariadas para a detecção de fatores associados os efeitos solo e teto. Resultados: Nós avaliamos dados de 366 pacientes com DP, e aproximadamente 19% das pessoas tinham menos que cinco anos de escolaridade. Para a pontuação total do MoCA, não houve efeito solo ou teto. Houve efeito solo nos domínios abstração e memória de evocação tardia em 20% de nossa amostra. O efeito teto foi demonstrado em todos os domínios (80,8% mais comum em nomeação e 89% orientação), com exceção de memória de evocação tardia. A educação foi o principal fator associado aos efeitos solo e teto, independentemente de região, sexo, idade na avaliação e duração da doença. Conclusão: Os efeitos solo e teto estão presentes em domínios específicos da MoCA no Brasil, com forte impacto da educação. Adaptações adicionais à estrutura da MoCA para populações vulneráveis podem reduzir esses efeitos negativos.

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BACKGROUND: Telemedicine for patients with parkinsonism is feasible, cost-effective and satisfactory. However, the feasibility of this modality of care for this subpopulation is not known in real-life scenarios of developing countries like Brazil. OBJECTIVE: To evaluate the feasibility of telemedicine for patients with parkinsonism in a developing country. METHODS: A cross-sectional study with patients with parkinsonism treated in the Brazilian public healthcare system. We included 130 patients, who were contacted by telephone; those who could be reached underwent a structured interview for data collection. The primary outcomes were the feasibility of teleconsultations and video consultations, but we also performed a logistic regression regarding the feasibility of a video consultation and associated factors. RESULTS: Telemedicine was feasible and accepted by 69 (53.08%) patients regarding teleconsultations and by 50 (38.5%) patients regarding video consultations. Teleconsultations were feasible for 80.2%, and video consultations were feasible for 58.1% of the patients reachable through telephone calls. Having a higher family income was positively correlated with the feasibility for a video consultation while a negative association was observed regarding being married or in a stable union and having a low level of schooling. CONCLUSIONS: A significant proportion of patients with parkinsonism in a developing country are unreachable, unwilling, or unable to participate in telemedicine. Among the reachable patients, feasibility is higher but still lower than what is reported in studies in developed countries. Family income, level of schooling, and marital status were associated with the feasibility of video consultations.

ANTECEDENTES: A telemedicina para pacientes com parkinsonismo é viável, econômica e satisfatória. No entanto, a viabilidade dessa modalidade de atendimento para essa subpopulação não é conhecida no cenário da vida real de países em desenvolvimento como o Brasil. OBJETIVO: Avaliar a viabilidade da telemedicina para pacientes com parkinsonismo em um país em desenvolvimento. MéTODOS: Estudo transversal com pacientes com parkinsonismo atendidos na rede pública de saúde brasileira. Foram incluídos 130 pacientes, que foram contatados por telefone; os que responderam foram submetidos a uma entrevista estruturada para coleta de dados. Os resultados primários foram a viabilidade para teleconsultas e videoconsultas, mas também foi realizada uma regressão logística entre a viabilidade de uma videoconsulta e fatores associados. RESULTADOS: A participação em telemedicina era possível ou consentida por 69 (53,08%) dos pacientes com relação a teleconsultas, e por 50 (38,5%) com relação a videoconsultas. As teleconsultas e videoconsultas eram viáveis para 80,2% e 58,1% dos pacientes acessíveis por telefone, respectivamente. Uma maior renda familiar foi positivamente correlacionada com a viabilidade de uma videoconsulta, enquanto uma associação negativa foi observada com relação a ser casado ou estar em união estável e ter baixo grau de escolaridade. CONCLUSõES: Uma proporção significativa de pacientes com parkinsonismo em um país em desenvolvimento é inacessível, não quer, ou não pode participar da telemedicina. Entre os pacientes contatáveis, a viabilidade é maior, mas ainda menor do que a relatada em estudos em países desenvolvidos. Renda familiar, escolaridade e estado civil foram associados à viabilidade das videoconsultas.

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Abstract Background Telemedicine for patients with parkinsonism is feasible, cost-effective and satisfactory. However, the feasibility of this modality of care for this subpopulation is not known in real-life scenarios of developing countries like Brazil. Objective To evaluate the feasibility of telemedicine for patients with parkinsonism in a developing country. Methods A cross-sectional study with patients with parkinsonism treated in the Brazilian public healthcare system. We included 130 patients, who were contacted by telephone; those who could be reached underwent a structured interview for data collection. The primary outcomes were the feasibility of teleconsultations and video consultations, but we also performed a logistic regression regarding the feasibility of a video consultation and associated factors. Results Telemedicine was feasible and accepted by 69 (53.08%) patients regarding teleconsultations and by 50 (38.5%) patients regarding video consultations. Tele-consultations were feasible for 80.2%, and video consultations were feasible for 58.1% of the patients reachable through telephone calls. Having a higher family income was positively correlated with the feasibility for a video consultation while a negative association was observed regarding being married or in a stable union and having a low level of schooling. Conclusions A significant proportion of patients with parkinsonism in a developing country are unreachable, unwilling, or unable to participate in telemedicine. Among the reachable patients, feasibility is higher but still lower than what is reported in studies in developed countries. Family income, level of schooling, and marital status were associated with the feasibility of video consultations.

Resumo Antecedentes A telemedicina para pacientes com parkinsonismo é viável, econômica e satisfatória. No entanto, a viabilidade dessa modalidade de atendimento para essa subpopulação não é conhecida no cenário da vida real de países em desenvolvimento como o Brasil. Objetivo Avaliar a viabilidade da telemedicina para pacientes com parkinsonismo em um país em desenvolvimento. Métodos Estudo transversal com pacientes com parkinsonismo atendidos na rede pública de saúde brasileira. Foram incluídos 130 pacientes, que foram contatados por telefone; os que responderam foram submetidos a uma entrevista estruturada para coleta de dados. Os resultados primários foram a viabilidade para teleconsultas e videoconsultas, mas também foi realizada uma regressão logística entre a viabilidade de uma videoconsulta e fatores associados. Resultados A participação em telemedicina era possível ou consentida por 69 (53,08%) dos pacientes com relação a teleconsultas, e por 50 (38,5%) com relação a videoconsultas. As teleconsultas e videoconsultas eram viáveis para 80,2% e 58,1% dos pacientes acessíveis por telefone, respectivamente. Uma maior renda familiar foi positivamente correlacionada com a viabilidade de uma videoconsulta, enquanto uma associação negativa foi observada com relação a ser casado ou estar em união estável e ter baixo grau de escolaridade. Conclusões Uma proporção significativa de pacientes com parkinsonismo em um país em desenvolvimento é inacessível, não quer, ou não pode participar da tele-medicina. Entre os pacientes contatáveis, a viabilidade é maior, mas ainda menor do que a relatada em estudos em países desenvolvidos. Renda familiar, escolaridade e estado civil foram associados à viabilidade das videoconsultas.

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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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BACKGROUND: Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. OBJECTIVE: This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations. METHODS: We searched PubMed and EMBASE until October 2021 using search strings for "PD," "genetics," the main "URP," and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non-European populations. Two levels of independent reviewers identified and extracted information. RESULTS: We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome-wide approach published up to 2021, including URPs. CONCLUSION: This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. © 2022 International Parkinson and Movement Disorder Society.

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