Publications by authors named "Carlos Rieder"

Article Synopsis
  • 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.
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Background: The MDS-UPDRS has been available in English since 2008, showing satisfactory clinimetric results and being proposed as the new official benchmark scale for Parkinson's disease (PD), being cited as a core instrument for PD in the National Institutes of Neurological Disorders and Stroke Common Data Elements program. For this reason, the MDS created guidelines for development of MDS-UPDRS official, clinimetrically validated translations.

Objective: This study presents the formal process used to obtain the officially approved Portuguese version of the MDS-UPDRS.

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Article Synopsis
  • Parkinson's disease (PD) is increasingly recognized as a public health issue, particularly in lower-income countries where data is limited.
  • A systematic review of literature identified 57 relevant studies from various regions, revealing significant geographical differences in PD prevalence, with numbers ranging from 49 to 1081 per 100,000 population.
  • The study found that PD prevalence increases with age and is influenced by socioeconomic factors such as GDP per capita, highlighting the need for better data collection and standardized methodologies across different populations.
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Introduction: Parkinson's disease (PD) is a neurodegenerative disorder characterized by dopaminergic neurons' degeneration of the substantia nigra, presenting with motor and non-motor symptoms. We hypothesized that altered diffusion metrics are associated with clinical symptoms in de novo PD patients.

Methods: Fractional Anisotropy (FA) and Mean (MD), Axial (AD), and Radial Diffusivity (RD) were assessed in 55 de novo PD patients (58.

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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.

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Background: Stereotaxic Radiosurgery (SRS) is a non-invasive lesioning technique for movement disorders when patients cannot undergo DBS due to medical comorbidities.

Objective: To describe and summarize the literature on SRS's application and physical parameters for Parkinson's disease (PD) motor symptoms.

Methods: The MEDLINE/PUBMED and EMBASE databases were searched in July 2022 following the PRISMA guideline.

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Unlabelled: 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.

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Background: Handicap is a patient-centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late-stage Parkinson's Disease (PD).

Objective: To characterize the handicap of a broader sample of patients.

Methods: A cross-sectional study of 405 PD patients during the MDS-UPDRS Portuguese validation study, using the MDS-UPDRS, Unified Dyskinesias Rating Scale, Nonmotor symptoms questionnaire, PDQ-8 and EQ-5D-3L.

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Background: Evaluation and treatment of primary and secondary headaches is a global public health challenge. Recognizing the epidemiological impact of headaches, a group of researchers linked to the Brazilian Headache Society proposed the Brazilian Headache Registry and drew up its initial protocol.

Objective: Here we describe the methods and preliminary data obtained from the pilot study.

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Background: Sex differences in Parkinson's disease (PD) risk are well-known. However, the role of sex chromosomes in the development and progression of PD is still unclear.

Objective: The objective of this study was to perform the first X-chromosome-wide association study for PD risk in a Latin American cohort.

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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.
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Objective: To identify under what circumstances a university student should be allowed academic accommodation for ADHD. To frame an evidence-based policy for use in Brazil based on a worldwide experience.

Methods: We reviewed the literature to acquire information on what documents are commonly required by disability services before accommodation for ADHD is made (including malingering detection).

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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.
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Sex differences in Parkinson Disease (PD) risk are well-known. However, it is still unclear the role of sex chromosomes in the development and progression of PD. We performed the first X-chromosome Wide Association Study (XWAS) for PD risk in Latin American individuals.

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Background: Depression is an important nonmotor symptom of Parkinson's disease (PD) and has been associated with the motor symptoms in these individuals.

Objectives: To determine whether there are relationships between depressive symptoms and abnormalities in axial postural alignment and axial motor deficits, especially postural instability, and trunk rigidity in PD.

Methods: In this cross-sectional study, 65 individuals were evaluated using the Beck Depression Inventory-II (BDI-II) for the analysis of depressive symptoms and underwent a postural assessment of head, trunk, and hip sagittal alignment through computerized photogrammetry.

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In this paper, we present a historical review of the whistle-smile reflex, a semiological sign missed in the literature and clinical practice.

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Background: Hyposmia is one of the most common, as well as the first nonmotor condition in Parkinson disease (PD). The sniffin sticks test (SST) evaluates three different aspects of olfactory function: threshold (T), discrimination (D), and identification (I). The sum of the scores of these three subtests produce a global score of olfaction, the Threshold-Discrimination-Identification (TDI) score.

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Background: The coexistence of amyotrophic lateral sclerosis (ALS) with clinical forms of Parkinson disease (PD), although uncommon, is found to a greater degree than one would expect by chance. The pathological mechanisms of ALS and PD are still not fully understood, and the coexistence of these two diseases suggests that they could share mechanisms in common.

Objective: Here we present a sample of patients with clinically definitive or probable ALS who were evaluated with single-photon emission computed tomography SPECT/TRODAT and compared with non-ALS controls.

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Article Synopsis
  • Previous Parkinson's disease genome-wide association studies (GWAS) focused mainly on individuals of European ancestry, resulting in polygenic risk scores (PRS) that may not accurately predict PD risk in non-European populations.
  • In this study, a PD PRS was developed specifically for a Latino cohort and validated using data from independent Latino subjects and additional Peruvian controls, which showed varying predictive strengths.
  • Findings indicate that while the PRS shows promise for predicting PD risk among Latinos, differences in genetic ancestry and the limitations of relying on European data highlight the need for more inclusive research to refine risk prediction across diverse populations.
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The treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.

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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.
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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 allele in the gene is the most well-characterized allele responsible for the lactase persistence phenotype, the > (rs4988235) polymorphism is commonly evaluated in lactase persistence studies. Lactase non-persistent adults may develop symptoms of lactose intolerance when consuming dairy products.

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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.

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Background: Noninvasive stimulation has been widely used in the past 30 years to study and treat a large number of neurological diseases, including movement disorders.

Objective: In this critical review, we illustrate the rationale for use of these techniques in movement disorders and summarize the best medical evidence based on the main clinical trials performed to date.

Methods: A nationally representative group of experts performed a comprehensive review of the literature in order to analyze the key clinical decision-making factors driving transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS) in movement disorders.

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