Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.

Parkinson's disease (PD) is the second most prevalent neurodegenerative disease globally, with a fast-growing prevalence. The etiology of PD exhibits a multifactorial complex nature and remains challenging. Herein, we described clinical, molecular, and integrative bioinformatics findings from a Brazilian female affected by Early-Onset PD (EOPD) harboring a recurrent homozygous pathogenic deletion in the parkin RBR E3 ubiquitin protein ligase gene (PRKN; NM_004562.

Oscillometry of the respiratory system in Parkinson's disease: physiological changes and diagnostic use.

Background: Lung function analysis in Parkinson's disease (PD) is often difficult due to the demand for adequate forced expiratory maneuvers. Respiratory oscillometry exams require onlyquiet tidal breathing and provide a detailed analysis of respiratory mechanics. We hypothesized that oscillometry would simplify the diagnosis of respiratory abnormalitiesin PD and improve our knowledge about the pathophysiological changes in these patients.

Fatigue in Brazilian patients with Parkinson's disease.

Unlabelled: Fatigue is a non-motor symptom of high prevalence in Parkinson's disease (PD); however, it is still unknown and neglected by health professionals.

Objective: This study aimed to demonstrate the prevalence of fatigue in patients with PD after excluding confounding factors, as well as its correlation with clinical and demographic data, and to find its negative impact on the quality of life of these patients.

Methods: A cross-sectional study was carried out with 237 randomly selected patients.

Utility of manual fractional anisotropy measurements in the management of patients with Parkinson disease: a feasibility study with a 1.5-T magnetic resonance imaging system.

Background: Diffusion tensor imaging has emerged as a promising tool for quantitative analysis of neuronal damage in Parkinson disease, with potential value for diagnostic and prognostic evaluation.

Purpose: The aim of this study was to examine Parkinson disease-associated alterations in specific brain regions revealed by diffusion tensor imaging and how such alterations correlate with clinical variables.

Material And Methods: Diffusion tensor imaging was performed on 42 Parkinson disease patients and 20 healthy controls with a 1.

Mild cognitive impairment in Parkinson's disease: Characterization and impact on quality of life according to subtype.

Aim: Mild cognitive impairment (MCI) was initially described as a risk factor for Alzheimer's disease. Because of differences in baseline cognitive abilities, MCI in Parkinson's disease (PD; PD-MCI) requires distinct neuropsychological criteria for diagnosis and follow up. In addition to representing a risk factor for PD-related dementia, PD-MCI results in higher morbidity, which can be reduced through early detection.

Electrostimulation of the posterior tibial nerve in individuals with overactive bladder: a literature review.

[Purpose] This study aims to gather scientific evidence to identify whether clinical trials on Electrostimulation of the Posterior Tibial Nerve (ESPTN) in individuals with overactive bladder present an adequate methodological standard according to the PEDro (Physiotherapy Evidence Database) criteria. [Methods] Integral literature review, including randomized controlled clinical trials found in PEDro. [Results] We found 16 articles, of which only one did not meet the inclusion criteria.

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.

Robust evidence on the involvement of genetic factors in the etiology of Parkinson's disease (PD) expands our knowledge about monogenic causes that contribute for this important neurodegenerative disorder. Mutations in the CHCHD2 gene have been linked to autosomal dominant forms of PD, although there is still lack of evidence for CHCHD2 variants leading to the disease in mixed populations as those from South America. To assess the contribution of CHCHD2 as a causal factor for familial PD in Brazil, one of the most heterogeneous populations in the world, we conducted the first molecular analysis of the CHCHD2 gene in a cohort of 122 index cases from Brazilian families with autosomal dominant forms of PD.

Laryngopharyngeal motor dysfunction and obstructive sleep apnea in Parkinson's disease.

Purpose: Obstructive sleep apnea (OSA) is a common sleep disorder in Parkinson's disease (PD), but the relationship between these two conditions remains uncertain. Upper airway (UA) dysfunction in PD is well documented in some patients and is believed to be a reflex of the motor involvement of laryngopharyngeal muscles. The aim of this study is to determine whether UA dysfunction and laryngopharyngeal motor dysfunction (LMD) are involved in the obstructive phenomenon of OSA in PD.

Volumetric brain analysis as a predictor of a worse cognitive outcome in Parkinson's disease.

Unlabelled: Cognitive impairment in Parkinson's disease (PD) results in significant morbidity and mortality being early diagnosis essential. Identification of patients who are at higher risk of developing cognitive impairment based only on clinical data is not sufficient. To this end, magnetic resonance imaging (MRI) with automatic segmentation, such as FreeSurfer, could be a useful tool with high accuracy because it has histological validation.

Fatigue in Parkinson's disease: concepts and clinical approach.

Parkinson's disease (PD) is a progressive neurological disorder characterized by a large number of motor and non-motor features. Fatigue is one of the most common and most disabling symptoms among patients with PD, and it has a significant impact on their quality of life. Although fatigue has been recognized for a long time, its pathophysiology remains poorly understood, and there is no evidence to support any therapeutic approach in PD patients.

Symptoms of depression in patients with mild cognitive impairment in Parkinson's disease.

Objective: To investigate the most frequent depressive symptoms and their association with cognition in Parkinson's disease (PD) patients with mild cognitive impairment (MCI).

Methods: 48 patients with PD and 44 controls (CG), aged between 50 and 80 years and with at least 4 years of formal education, all with MCI and none diagnosed with depression, were assessed. Patients and controls were matched for age, education, and Mini-Mental State Examination (MMSE) score.

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

Background: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and GBA genes. In this sense, the clarification of the genotype-phenotype correlations in PD has important implications in predicting prognosis and can contribute to the development of specific therapeutic approaches.

The role of diffusion magnetic resonance imaging in Parkinson's disease and in the differential diagnosis with atypical parkinsonism.

Parkinson's disease is one of the most common neurodegenerative diseases. Clinically, it is characterized by motor symptoms. Parkinson's disease should be differentiated from atypical parkinsonism conditions.

rs3851179 Polymorphism at 5' to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population.

Alzheimer's (AD) and Parkinson's diseases (PD) share clinical and pathological features, suggesting that they could have common pathogenic mechanisms, as well as overlapping genetic modifiers. Here, we performed a case-control study in a Brazilian population to clarify whether the risk of AD and PD might be influenced by shared polymorphisms at PICALM (rs3851179), CR1 (rs6656401) and CLU (rs11136000) genes, which were previously identified as AD risk factors by genome-wide association studies. For this purpose, 174 late-onset AD patients, 166 PD patients and 176 matched controls were genotyped using TaqMan assays.

Correlation of MRI Visual Scales with Neuropsychological Profile in Mild Cognitive Impairment of Parkinson's Disease.

Few studies have evaluated magnetic resonance imaging (MRI) visual scales in Parkinson's disease-Mild Cognitive Impairment (PD-MCI). We selected 79 PD patients and 92 controls (CO) to perform neurologic and neuropsychological evaluation. Brain MRI was performed to evaluate the following scales: Global Cortical Atrophy (GCA), Fazekas, and medial temporal atrophy (MTA).

Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.

Introduction: Amongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with a history of PD consistent with autosomal dominant inheritance (ADPD), and their relevance to the etiology of PD has been poorly explored in Latin American populations, such as the Brazilian one, with a high degree of admixture.

Methods: In order to assess the contribution of specific mutations in LRRK2, SNCA, VPS35 and GBA genes to ADPD in Brazil, we conducted the first molecular evaluation in a cohort of 141 index cases from families with ADPD.

Parkinsonism in HIV infected patients during antiretroviral therapy - data from a Brazilian tertiary hospital.

Introduction: Advances in the treatment of HIV infection in the last decades have increased life expectancy of these patients and raise the question of what kind of effect chronic infection and its treatment might exert on the behavior of age-related conditions such as neurodegenerative diseases.

Patient Data: We performed a retrospective analysis of patients' records to assess the frequency of the association between HIV infection and parkinsonian symptoms in our hospital population. Among 249 records we identified four individuals with reported parkinsonian symptoms initiated after HIV diagnosis.

Neurodegeneration with brain iron accumulation: A case report.

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA).

The Behavior of Migraine in Patients with Parkinson's Disease.

Parkinson's disease (PD) is characterized by the degeneration of dopaminergic systems in the central nervous system. In migraine it is supposed to occur hyperactivation of central dopaminergic pathways. We verified the hypothesis of improved migraine in patients who manifest PD.

Environmental and microbial factors influencing methane and nitrous oxide fluxes in Mediterranean cork oak woodlands: trees make a difference.

Cork oak woodlands (montado) are agroforestry systems distributed all over the Mediterranean basin with a very important social, economic and ecological value. A generalized cork oak decline has been occurring in the last decades jeopardizing its future sustainability. It is unknown how loss of tree cover affects microbial processes that are consuming greenhouse gases in the montado ecosystem.

Parkinson's disease dementia: Diagnostic criteria and risk factor review.

Cognitive impairment in Parkinson's disease (PD) greatly affects the morbidity and mortality rates of the disease and can be present as mild executive dysfunction even in the early stages. In advanced PD, the prevalence of dementia (PDD) reaches more than 80%. The Movement Disorders Society (MDS) has proposed diagnostic criteria for PDD and Mild Cognitive Impairment (MCI) in PD, raising the sensibility and specificity of those diagnoses compared with DSM IV, for example.

Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.

Background: Amongst Parkinson's disease-causing genetic factors, missense mutations and genomic multiplications in the gene encoding α-synuclein are well established causes of the disease, although genetic data in populations with a high degree of admixture, such as the Brazilian one, are still scarce.

Methods: In this study, we conducted a molecular screening of α-synuclein point mutations and copy number variation in the largest cohort of Brazilian patients with Parkinson's disease (n = 549) and also in twelve Portuguese and one Bolivian immigrants. Genomic DNA was isolated from peripheral blood leukocytes or saliva, and the mutational screening was performed by quantitative and qualitative real-time PCR.

Resilience of a semi-deciduous shrub, Cistus salvifolius, to severe summer drought and heat stress.

Shrubs often form the understorey in Mediterranean oak woodlands. These shrubs are exposed to recurrent water deficits, but how they will respond to predicted future exacerbation of drought is not yet understood. The ecophysiology of the shrub Cistus salvifolius L.