Publications by authors named "Pedro R P Brandao"
Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient.
Hum Genome Var
January 2025
Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.
View Article and Find Full Text PDFArticle 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.
Purpose: To establish cutaneous silent period (CSP) normative values and investigate the variables that may influence them.
Methods: We tested 41 healthy subjects. All subjects underwent nerve conduction studies, and we evaluated the CSP in both arms.
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.
Introduction: Movement disorders are increasingly described in hospitalized and milder cases of SARS-CoV-2 infection, despite a very low prevalence compared to the total patients.
Methods: We reviewed the scientific literature published in English, spanning from the initial descriptions of COVID-19 until January 25, 2021, in the PubMed/MEDLINE database.
Results: We identified 93 new-onset movement disorders cases (44 articles) from 200 papers screened in the database or reference lists.
Cognitive dysfunction in Parkinson's disease (PD) has received increasing attention, and, together with other non-motor symptoms, exert a significant functional impact in the daily lives of patients. This article aims to compile and briefly summarize selected published data about clinical features, cognitive evaluation, biomarkers, and pathophysiology of PD-related dementia (PDD). The literature search included articles indexed in the MEDLINE/PubMed database, published in English, over the last two decades.
View Article and Find Full Text PDFNonmotor symptoms are common in Parkinson's disease (PD) and they include dysregulation of cardiovascular system, which adversely affects quality of life. Recent studies provide indirect evidence that baroreflex dysfunction may be one of the mechanisms of cardiovascular dysregulation in PD. Herein, we tested the hypothesis that the baroreflex gain, assessed across an extensive range of the reflex arc by eliciting rapid changes in blood pressure (BP) induced by sequential boluses of vasoactive drugs (modified-Oxford technique) would be attenuated in middle-aged patients with PD.
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