Huntington's disease-like 2 patients' profile in a Brazilian cohort.

Background: Huntington disease-like 2 (HDL2) is an autosomal dominant disorder caused by an abnormal CAG/CTG repeat in exon 2A of junctophilin-3. This is the most common Huntington's Disease phenocopy and is characterized by psychiatric, cognitive, and movement disorders. This study aimed to describe the clinical phenotype of HDL2 patients in Brazil and compare the findings with those in the literature.

EPIDEMIOLOGY OF LEVODOPA-INDUCED DYSKINESIA: PREVALENCE AND ASSOCIATED CLINICAL FACTORS IN LATIN AMERICA.

Background: Although levodopa remains the gold standard treatment for Parkinson's disease (PD), its chronic use is associated with levodopa-induced dyskinesia (LID), a motor complication that impacts prognosis, quality of life, and treatment costs. Most known LID-associated factors have been identified in European-descendant populations.

Objectives: To describe the epidemiology of LID in Latin American and Caribbean (LATAM) countries and assess the relevance of known and novel LID-associated factors in this population.

Genotype-phenotype association study conducted on LARGE-PD reveals novel loci associated with Parkinson's Disease.

Background: The Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD) is a multicenter collaboration aimed at understanding the genetic architecture of Parkinson's disease (PD) in this underrepresented population using data from 15 countries across the Americas and the Caribbean. In this study, we conducted the largest genome-wide association studies (GWAS) for PD susceptibility in Latin Americans.

Methods: We analyzed genotype data from LARGE-PD Phase 1 (n = 1,498) and Phase 2 (n = 4,401) using multiple GWAS approaches: SAIGE, which incorporates a genetic relationship matrix in the model; ATT, which includes global ancestry on the model; TRACTOR, which splits allele dosages by ancestry to detect ancestry-specific risk loci; and admixture mapping.

A novel restricted access-anion exchange organic monolithic phase for determining homocysteine and homocysteic acid in cerebrospinal fluid samples obtained from Alzheimer's disease patients by in-tube SPME-LC-MS/MS.

Background: High circulating concentrations of homocysteine (Hcy), a sulfur-containing amino acid, and homocysteic acid (HCA), an Hcy oxidized derivative, are an independent risk factor for developing Alzheimer's disease (AD), a neurodegenerative disorder that causes progressive cognitive decline. Therefore, these two endogenous compounds might be potential AD biomarkers. Nevertheless, few studies have attempted to quantify Hcy and HCA in the cerebrospinal fluid (CSF), the best validated fluid for evaluating neurodegenerative disorders.

Levodopa-induced dyskinesia is still a major clinical problem in Brazilian movement disorder clinics.

Levodopa-induced dyskinesia (LID) remains a significant motor complication in Parkinson's disease (PD), although opinions differ on its clinical relevance.To explore the current prevalence and impact of LID, we analyzed two cohorts from the Latin American Research Consortium on the Genetics of Parkinson's Disease from movement disorder clinics in the city of São Paulo, Brazil, recruited 10 years apart.The cohorts included 187 individuals diagnosed with PD in phase 1 (2007-2014) and 224 in phase 2 (2021-2022).

Modifiable risk factors associated with the risk of developing Parkinson's disease: a critical review.

The etiology of Parkinson's disease (PD) is complex and multifactorial, depending on interactions involving environmental/lifestyle and genetic factors. The genetic aspects of the disease are becoming well characterized, while the environmental factors still need further investigation. In the present narrative review, we have described the most concrete evidence of associations between environmental factors and the risk of developing PD.

Sex differences in the diagnosis latency of Parkinson's disease in Latin America.

Background: Age and sex are known risk factors for Parkinson's Disease (PD), but it remains controversial if there are sex differences in the diagnosis latency. The objective of this study was to examine these sex differences in Latin America.

Methods: The Latin American Research Consortium on the Genetics of PD (LARGE-PD) includes PD patients from countries across Latin America who were diagnosed using the UK Brain Bank criteria.

Guidelines for Parkinson's disease management part II: consensus from the movement disorders scientific department of the Brazilian Academy of Neurology - non-motor symptoms.

The treatment of Parkinson's disease (PD) is a challenge, especially because it is considered highly individualized. The Brazilian Academy of Neurology (ABN) has identified the need to disseminate knowledge about its management, adapting the best evidence to the Brazilian population. The present article aims to report the recommendations for the treatment of non-motor symptoms of PD, developed by a group of specialists in movement disorders from the ABN's scientific department.

Validation of the Portuguese version of the Movement Disorder Society non-motor rating scale (MDS-NMS) in Parkinson's disease.

Background: The Movement Disorder Society Non-Motor Rating Scale (MDS-NMS) serves as a comprehensive clinical assessment tool for non-motor symptoms in Parkinson's disease (PD) OBJECTIVES: This study aims to validate the Portuguese version of the MDS-NMS, addressing the critical need for culturally adapted rating scales in Portuguese-speaking populations.

Methods: This multicenter, cross-sectional study engaged native Portuguese-speaking PD patients from 16 Movement Disorders Centers across Portugal and Brazil. We conducted a meticulous translation process into Portuguese, including forward-backward translation and cognitive pretesting.

Differences and contributors to global cognitive performance in the underrepresented Latinx Parkinson's disease population.

Despite significant progress in understanding the factors influencing cognitive function in Parkinson's disease (PD), there is a notable gap in data representation for the Latinx population. This study aims to evaluate the contributors to and disparities in cognitive performance among Latinx patients with PD. A retrospective analysis was conducted based on cross-sectional data encompassing demographic, environmental, motor, and non-motor disease characteristics from the Latin American Research Consortium on the Genetics of PD (LARGE-PD) and the Parkinson's Progression Markers Initiative (PPMI) cohorts.

Validation of the Portuguese MDS-UPDRS: Challenges to Obtain a Scale Applicable to Different Linguistic Cultures.

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.

How Mild Is the Mild Long COVID? A Comprehensive Neuropsychological Assessment of Patients with Cognitive Complaints.

The global impact of the Coronavirus Disease (COVID-19) pandemic has extended beyond physical health, leading to widespread mental health issues. Beyond respiratory symptoms, there is a growing concern about long-term cognitive effects, particularly in individuals who experienced mild cases of the infection. We aimed to investigate the neuropsychological aspects of long-term COVID-19 in non-hospitalized adults compared with a control group.

Parkinson's disease and levodopa-induced dyskinesias: a quantitative analysis through Tc-TRODAT-1 SPECT imaging of the brain.

Objective: To compare the dopamine transporter (DAT) density with other risk factors for L-DOPA-induced dyskinesia (LID) in patients with Parkinson's disease (PD), with and without LID.

Materials And Methods: We evaluated 67 subjects: 44 patients with idiopathic PD of varying degrees of severity (PD group), and 23 healthy age-matched volunteers (control group). Among the 44 patients in the PD group, 29 were male and the following means were recorded at baseline: age, 59 ± 7 years; disease duration, 10 ± 6 years; Hoehn and Yahr (H&Y) stage, 2.

Parkinson's Disease Gene Screening in Familial Cases from Central and South America.

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.

The clinical diagnosis of Parkinson's disease.

After more than 200 years since its initial description, the clinical diagnosis of Parkinson's disease (PD) remains an often-challenging endeavor, with broad implications that are fundamental for clinical management. Despite major developments in understanding it's pathogenesis, pathological landmarks, non-motor features and potential paraclinical clues, the most accepted diagnostic criteria remain solidly based on a combination of clinical signs. Here, we review this process, discussing its history, clinical criteria, differential diagnoses, ancillary diagnostic testing, and the role of non-motor and pre-motor signs and symptoms.

Floor and ceiling effects on the Montreal Cognitive Assessment in patients with Parkinson's disease in Brazil.

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.

Movement disorders in hereditary spastic paraplegias.

Background:  Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia.

Objective:  To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases.

Hearts and Minds: Emotion Recognition and Mentalizing in Parkinson's Disease and Progressive Supranuclear Palsy.

Objective: There are scarce data comparing Parkinson's disease (PD) and Progressive Supranuclear Palsy (PSP) in social cognition (SC). We aimed to compare patients with PSP and PD in SC.

Methods: We included three groups: PD (n = 18), PSP (n = 20) and controls (n = 23).

Handicap as a Measure of Perceived-Health Status in Parkinson's Disease.

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.