Publications by authors named "Artur F Schumacher Schuh"
Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.
View Article and Find Full Text PDFThe age-standardized prevalence of Parkinson's disease (PD) has increased substantially over the years and is expected to increase further. This emphasizes the need to identify modifiable risk factors of PD, which could form a logical entry point for the prevention of PD. The World Health Organization (WHO) has recommended reducing exposure to specific environmental factors that have been reported to be associated with PD, in particular pesticides, trichloroethylene (TCE), and air pollution.
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- Latin Americans are often overlooked in genetic studies, which can widen gaps in personalized medicine due to the challenges of accessing genetic data and consent processes.
- The Genetics of Latin American Diversity (GLAD) Project compiles genetic information from over 53,000 individuals across various regions to explore diverse ancestry and gene flow in the Americas.
- GLAD includes a tool called GLAD-match to align external genetic samples with its database while protecting individual privacy, thus supporting more inclusive genomic research and enhancing personalized medicine for Latin Americans.
Article Synopsis
- The study examines how recent updates in Alzheimer's disease diagnostic guidelines from NIA-AA and IWG impact clinical diagnoses among cognitively unimpaired and impaired individuals.
- It analyzed clinical and biomarker data from 1,195 participants, noting differences in diagnostic labels assigned under various guidelines and the frequency of discordant diagnoses among them.
- The findings revealed significant variance in predictive value for cognitive impairment across different diagnostic frameworks, with older guidelines showing a clearer correlation than some of the more recent ones.
Article Synopsis
- Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
- The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
- Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.
Background: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is known about their role in Latin American populations.
View Article and Find Full Text PDFObjectives To evaluate and compare different polygenic risk score (PRS) models in predicting Parkinsons disease (PD) across diverse ancestries, focusing on identifying the most suitable approach for each population and potentially contributing to equitable advancements in precision medicine. Methods We constructed a total of 105 PRS across individual level data from seven diverse ancestries. First, a cross-ancestry conventional PRS comparison was implemented by utilizing the 90 known European risk loci with weighted effects from four independent summary statistics including European, East Asian, Latino/Admixed American, and African/Admixed.
View Article and Find Full Text PDFUnlabelled: 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.
Article Synopsis
- Brazil's population of individuals aged 60+ is projected to reach 90 million by 2050, alongside a growing economic burden from Parkinson's disease (PD), highlighting the need for cost assessments to inform public policy.
- A study collected cost-related data from 1,055 people with PD across Brazil, finding an average annual cost of approximately US$ 4,020.48, with direct costs forming 63% and indirect costs 36% of total expenses.
- The study emphasizes the significant financial impact of PD on Brazilian society and individuals, with no major regional cost differences, but variations noted based on PD progression stages.
Article Synopsis
- - This study highlights the importance of identifying hereditary parkinsonism for better diagnosis and personalized therapies, especially in underrepresented populations like those in Latin America.
- - A systematic review and meta-analysis of studies from 16 Latin American countries evaluated the prevalence of genetic parkinsonism and found pathogenic variants in 19 genes among over 7,600 patients.
- - The analysis revealed specific frequencies for genes LRRK2 (1.38%), PRKN (1.16%), and GBA1 (4.17%), although high heterogeneity was noted across the studies, indicating variability in findings.
Feasibility for evaluating motor aspects of Parkinson's disease through video consultations in a resource-limited setting in Southern Brazil.
Arq Neuropsiquiatr
May 2023
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.
Article Synopsis
- The study investigates how speech is affected in patients with disorders of the basal ganglia (like Parkinson's disease) compared to those with cerebellar disorders (like spinocerebellar ataxia type 3).
- It includes 20 patients with Parkinson's, 20 with SCA3, and 40 healthy controls, analyzing their speech through specific tasks.
- Results show that SCA3 patients produced fewer syllables in monologs compared to controls, while PD patients had even lower syllable counts and phonation times, indicating that monolog tasks can effectively differentiate between these conditions and correlate with disease severity.
Article Synopsis
- Levodopa is the primary treatment for Parkinson's disease (PD) but can lead to movement problems called levodopa-induced dyskinesia (LID) with long-term use.
- This study aimed to determine the relationship between serum uric acid (UA) levels and the occurrence of LIDs in PD patients, along with how UA levels correlate with other clinical features.
- Findings revealed that lower UA levels were significantly associated with the presence of dyskinesia, and UA levels were also correlated with depressive symptoms, disease duration, and age at onset of PD.
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.
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.
View Article and Find Full Text PDFBackground: 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.
Introduction: Functional Cognitive Disorder (FCD) is a non-degenerative, common cause of memory complaint in patients with high educational levels. FCD has been insufficiently described in individuals with low education. Here, we investigated the frequency of FCD among individuals with low education.
View Article and Find Full Text PDFPrevalence and incidence of Parkinson's disease and other forms of parkinsonism in a cohort of elderly individuals in Southern Brazil: protocol for a population-based study.
BMJ Open
December 2021
Article Synopsis
- The study aims to investigate the prevalence and incidence of Parkinson's disease and other parkinsonian syndromes in an elderly population in southern Brazil, addressing a gap in existing research specific to this region.
- It will use a two-phase approach, starting with screening elderly residents using questionnaires and interviews, followed by evaluations by trained physicians to confirm cases of parkinsonism.
- The research has ethical approval and ensures informed consent from participants, with plans to share results through scientific publications and conferences.
Introduction: Parkinsonism-hyperpyrexia syndrome (PHS) is a rare and potentially fatal complication of Parkinson disease (PD) characterized by a neuroleptic malignant-like syndrome due to abrupt discontinuation of antiparkinsonian medications.
Case Report: A 79-year-old woman with late-stage PD presented at the hospital with neuropsychiatric and uncontrolled parkinsonian motor symptoms. Soon after the abrupt discontinuation of amantadine, the patient suddenly presented with global rigidity, global unresponsiveness, diaphoresis, tachycardia, recurrent hyperpyrexia, and a mildly elevated creatine kinase, which lead to the diagnosis of PHS.
Coffee has been inversely associated with Parkinson's disease (PD) in many studies, and caffeine is the leading candidate to mediate this effect. (, IP), a caffeinated beverage rich in antioxidants consumed in South America, was also inversely associated with PD in one study from Argentina. Other varieties of IP infusion, such as , were never studied in PD.
View Article and Find Full Text PDFNeuropsychiatric Symptoms in Patients with Dementia Associated with Increased Psychological Distress in Caregivers During the COVID-19 Pandemic.
J Alzheimers Dis
May 2021
Background: The social isolation imposed by COVID-19 pandemic can have a major impact on the mental health of dementia patients and their caregivers.
Objective: We aim to evaluate the neurological decline of patients with dementia and the caregivers' burden during the pandemic.
Methods: We performed a cross-sectional study.
Article Synopsis
- - The study focuses on understanding the genetic factors associated with Parkinson's disease (PD) in Latino populations, as previous research has primarily centered on European genetic backgrounds.
- - It analyzed genome-wide data from 747 PD patients and 632 controls, revealing that PD patients had a higher prevalence of copy number variants linked to known PD genes, with the strongest association found in the PRKN gene.
- - Notably, 5.6% of patients with early-onset PD carried a variant in PRKN, suggesting that while the overall burden of copy number variants was similar, those with genetic variants in key genes experienced earlier onset of the disease.
Background: Parkinson's disease (PD) is a neurodegenerative disease with an often complex component identifiable by genome-wide association studies. The most recent large-scale PD genome-wide association studies have identified more than 90 independent risk variants for PD risk and progression across more than 80 genomic regions. One major challenge in current genomics is the identification of the causal gene(s) and variant(s) at each genome-wide association study locus.
View Article and Find Full Text PDFBackground: Multiple studies have suggested that various pesticides are associated with a higher risk of developing Parkinson's disease (PD) and may influence the progression of the disease. However, the evidence regarding the impact of pesticide exposure on mortality among patients with PD is equivocal. This study examines whether pesticide exposure influences the risk of mortality among patients with PD in Southern Brazil.
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