Average annual cost of Parkinson's disease in a Brazilian multiethnic population.

INTRODUCTION: With the current demographic transition, it is estimated that by 2050 Brazil will have a population of 90 million people aged 60 years or more, and in parallel Parkinson's disease (PD) will bring a considerable economic burden to our society. Brazil is considered multiracial due to its colonization, generating important social and regional inequalities. Knowing the costs of the PD may aid to improve local public policies. However, in Brazil, no estimates of these values have been made so far. OBJECTIVES: To evaluate direct, indirect, and out-of-pocket costs in Brazilian people with PD (PwP). METHODS: Categorical and numerical data were collected through a customized and standardized cost-related-questionnaire from 1055 PwP nationwide, from 10 tertiary movement disorders centers across all Brazilian regions. RESULTS: The estimated average annual cost of PwP was US$ 4020.48. Direct and indirect costs accounted for 63% and 36% of the total, respectively, and out-of-pocket costs were 49%. There were no evidence of differences in the total cost of PD across the regions of the country; however, differences were reported between the stages of the Hoehn and Yahr scale (H&Y). CONCLUSION: This data suggests a considerable burden of PD for Brazilian society in general, not only for the public health system, but mainly for those with PD.

Comparison between a handheld ultrasound device and a traditional ultrasound for performing transcranial sonography in patients with Parkinson's disease.

OBJECTIVE: The aim of this study is to compare a portable ultrasound (US) device and a traditional US for performing transcranial ultrasonography (CCT) in patients with Parkinson's disease (PD). METHODS: This is a cross-sectional, observational, and analytical study. The study recruited a total of 129 individuals from two public hospitals in the city of Rio de Janeiro in a prospective and non-randomized manner between September 2019 and July 2021 as follows: group A with 31 patients with PD, group B with 65 patients with PD, and group C with 64 healthy individuals. Group A was used to collect data to establish the agreement analysis of the TCS measurements between the two devices. Groups B and C provided data for constructing the receiver operating characteristic curve for the handheld US. The subjects underwent the assessment of the transtemporal bone window (TW) quality, the mesencephalon area, the size of the third ventricle, and the substantia nigra (SN) hyperechogenicity area. RESULTS: There was a good agreement between the methods regarding the quality of the TW-Kappa concordance coefficient of 100% for the right TW and 83% for the left, the midbrain area-intraclass correlation coefficient (ICC) of 69%, the SN area ICC = 90% for the right SN and 93% for the left and the size of the third ventricle ICC = 96%. The cutoff point for the SN echogenic area in the handheld US was 0.20 cm2 . CONCLUSIONS: The handheld US is a viable imaging method for performing TCS because it shows good agreement with the measurements performed with traditional equipment, and the measurement of SN echogenic area for PD diagnosis presents good sensitivity and specificity.

Cognitive Complaints Assessment and Neuropsychiatric Disorders After Mild COVID-19 Infection.

OBJECTIVES: This study aimed to analyze cognitive impairment associated with long-term coronavirus disease 2019 (COVID-19) syndrome and its correlation with anxiety, depression, and fatigue in patients infected with severe acute respiratory syndrome coronavirus. METHODS: This was a cross-sectional study of 127 patients with COVID-19. Tests to screen for neuropsychiatric symptoms included the Fatigue Severity Scale, Mini-Mental State Exam 2 (MMSE-2), Symbol Digit Modalities Test (SDMT), and Hospital Anxiety and Depression Scale. RESULTS: In cognitive tests, SDMT was abnormal in 22%, being more sensitive than MMSE-2 to detect cognitive changes. Furthermore, although manifestations such as fatigue, depression, and anxiety were frequent in the post-COVID-19 phase, these 3 conditions, known to contribute to cognitive impairment, were slightly correlated with worse performance on the rapid screening tests. CONCLUSIONS: In patients with mild COVID-19 and cognitive complaints, SDMT helped to confirm disturbances in the attention domain and processing speed.

Guidelines for Parkinson's disease treatment: consensus from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology - motor symptoms.

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.

Guidelines for Parkinson's disease treatment: consensus from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology - motor symptoms / Diretrizes para o tratamento da doença de Parkinson: consenso do Departamento Científico de Transtornos do Movimento da Academia Brasileira de Neurologia - sintomas motores

ABSTRACT 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.

Resumo O tratamento da doença de Parkinson (DP) constitui um desafio, especialmente por ser considerado muito individualizado. A Academia Brasileira de Neurologia (ABN) identificou a necessidade de disseminar o conhecimento sobre o manejo do tratamento da DP, adaptando as melhores evidências à realidade brasileira. Assim, foi realizada uma revisão sobre as principais orientações de tratamento publicadas, baseada nas recomendações elaboradas por um grupo de especialistas em transtornos do movimento do departamento científico da ABN.

Clinical Utility of a Reaction-Time Attention Task in the Evaluation of Cognitive Impairment in Elderly with High Educational Disparity.

BACKGROUND: The Clinical Dementia Rating (CDR) scale is commonly used to stage cognitive impairment, despite having educational limitations. In elderly with low education, a previous study has shown that intraindividual variability of reaction time (CV) and commission errors (CE), measured using a culture-free Go/No-Go task, can reliably distinguish early Alzheimer's disease (AD) from mild cognitive impairment (MCI) and healthy controls. OBJECTIVE: We aimed to extend the clinical utility of this culture-free Go/No-Go task in a sample with high educational disparity. METHODS: One hundred and ten participants with a wide range of years of formal education (0-14 years) were randomly selected from a geriatric unit and divided based on their CDR scores into cognitively unimpaired (CDR = 0), MCI (CDR = 0.5), and early AD (CDR = 1). All underwent a 90-s reaction-time test that measured the variables previously found to predict CDR in low educated elderly. Here we added years of formal education (educational level) to the model. Multivariate analyses compared differences in group means using educational level as confounding factor. A confirmatory discriminant analyses was performed, to assess if CDR scores could be predicted by the two Go/No-Go variables in a sample with high educational disparity. RESULTS: Over all three groups, differences in both CE and CV reached statistical significance (p < 0.05). The discriminant analysis demonstrated that CV and CE discriminated cognitively impaired from cognitively normal elderly. These results remained similar when discriminating MCI from cognitively unimpaired elderly. CONCLUSION: The Go/No-Go task reliably discriminates elderly with MCI from elderly without cognitive impairment independent of educational disparity.

Attentional subdomains' deficits in Brazilian patients with major depressive episodes.

OBJECTIVE: Studies conducted in developed countries have shown that attentional impairment is commonly seen in patients with major depressive disorders (MDD). There is a lack of studies using culture-free neuropsychological instruments. Additionally, attention consists of different subdomains. Deficits in subdomains have not been investigated in MDD. Studies on subdomains using systematic frameworks are needed. We aimed to verify the percentage of Brazilian MDD patients with attention deficits, using a culture-free instrument; compare different attention subdomains in MDD patients with paired controls; find the subdomain that best discriminated controls from MDD patients. METHOD: Forty-five unmedicated patients currently with MDD and 45 age- and sex-matched controls participated in the study. Attention performance was measured by a Go/No-go task which detected omission errors, commission errors, reaction time (RT), and variability of reaction time (VRT). These variables assess four specific subdomains: focused attention (omission errors), response inhibition (commission errors), alertness (RT), and sustained attention (VRT). MANCOVAs were used to test group differences and logistic regressions to find the strongest predictor of MDD. RESULTS: Compared with normative data, 73.3% of the patients and 17.7% of the controls exhibited attention deficits, defined as a z-score < 2.0 on two or more subdomains. Depressed patients showed poorer performance in all attention subdomains. The VRT variable was the strongest predictor of MDD. Lapses in attention as the test progresses affected the stability of RTs and increased VRT in MDD patients. CONCLUSIONS: A significant proportion of the depressive patients shows attention deficits, as described in developed countries; all attention subdomains are affected in MDD patients; sustained attention is the most affected subdomain. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

Detection of Cognitive Dysfunction in Elderly with a Low Educational Level Using a Reaction-Time Attention Task.

BACKGROUND: Scales for cognitive deterioration usually depend on education level. OBJECTIVE: We aimed to study the clinical utility of a culture-free Go/No-Go task in a multi-ethnic cohort with low education level. METHODS: Sixty-four participants with less than 4 years of formal education were included and divided on the basis of their Clinical-Dementia-Rate scores (CDR) into cognitively unimpaired (CDR = 0), mild cognitive impairment (MCI; CDR = 0.5), and early Alzheimer's disease (AD, CDR = 1). All underwent a 90-s Continuous Visual Attention Test. This test consisted of a 90-s Go/No-go task with 72 (80%) targets and 18 (20%) non-targets. For each participant, reaction times and intraindividual variability of reaction times of all correct target responses, as well as the number of omission and commission errors were evaluated. Coefficient of variability was calculated for each participant by dividing the standard deviation of the reaction times by the mean reaction time. A MANCOVA was performed to examine between-group differences using age and sex as covariates. Discriminate analysis was performed to find the most reliable test-variable to discriminate the three groups. RESULTS: Commission error, intraindividual variability of reaction time, and coefficient of variability progressively worsened with increasing CDR level. Discriminant analysis demonstrated that coefficient of variability was the best discriminant factor, followed by intraindividual variability of reaction time and commission error. CONCLUSION: The Go/No-Go task was able to discriminate people with MCI or early AD from controls in the setting of illiteracy.

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. Genomic DNA was isolated from peripheral blood and the 4 exons of the CHCHD2 gene, and their intron-exon boundaries were analyzed by bidirectional Sanger sequencing. No pathogenic or risk variants were found, suggesting that genetic variants of CHCHD2 are not a common cause of familial PD in Brazilian patients.

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. METHODS: Here, we conducted the first comparative analysis of motor and non-motor features in 17 LRRK2 and 22 GBA mutation carriers and 93 non-carriers unrelated PD patients from Brazil, a highly admixed population. RESULTS: Significant differences were found between the three groups. LRRK2 PD patients presented more occurrence of familiar history. Resting tremor was observed in a lower frequency in GBA mutation carries. In contrast, gait freezing and dysautonomia was present in lower frequencies in LRRK2 carriers. Besides that, LRRK2 and GBA mutation carriers showed a higher incidence of depressive symptoms and a younger age at onset, when compared to non-carriers. CONCLUSION: Our results suggest that specific mutations in GBA and LRRK2 influence the clinical signs of the disease, with significant implications for handling of specific patient groups.

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. The results revealed that there were significant differences in genotype and allele frequencies for the SNP PICALM rs3851179 between AD/PD cases and controls, but none for CR1 rs6656401 and CLU rs11136000 intronic polymorphisms. After stratification by APOE ε4 status, the protective effect of the PICALM rs3851179 A allele in AD cases remains evident only in APOE ε4 (-) carriers, suggesting that the APOE ε4 risky allele weakens its protective effect in the APOE ε4 (+) subgroup. More genetic studies using large-sized and well-defined matched samples of AD and PD patients from mixed populations as well as functional correlation analysis are urgently needed to clarify the role of rs3851179 in the AD/PD risk. An understanding of the contribution of rs3851179 to the development of AD and PD could provide new targets for the development of novel therapies.

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. Genomic DNA was isolated from peripheral blood or saliva, and the molecular analysis was performed by TaqMan allelic discrimination assays or bidirectional sequencing. RESULTS: Heterozygous mutations in LRRK2 and GBA genes were identified in 10 (7.0%) probands, and all presented typical signs of classical PD. No mutations were found in SNCA or VPS35 genes. CONCLUSION: Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. The absence of mutations in VPS35 and SNCA genes reveals that they are uncommon causes of PD in Brazil, corroborating previous studies that also failed to detect these genetic variants in PD patients from other populations. Recent discoveries of novel causative genes of autosomal dominant forms of PD expand the investigative possibilities and should be targeted on future studies.

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. RESULTS: The only alteration identified was the p.E46K mutation in a 60-year-old man, born in Bolivia, with a familial history of autosomal dominant Parkinson's disease. This is the second family ever reported, in which this rare pathogenic mutation is segregating. The same mutation was firstly described ten years ago in a Spanish family with a neurodegenerative syndrome combining parkinsonism, dementia and visual hallucinations. The clinical condition of our proband reveals a less aggressive phenotype than previously described and reinforces that marked phenotypic heterogeneity is common among patients with Parkinson's disease, even among those carriers sharing the same mutation. CONCLUSION: Our findings add new insight into the preexisting information about α-synuclein p.E46K, improving our understanding about the endophenotypes associated to this mutation and corroborate that missense alterations and multiplications in α-synuclein are uncommon among Brazilian patients with Parkinson's disease.

Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.

Parkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5-10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing. We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified in PINK1 gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show that PARK2 point mutations are more common in Brazilian early-onset Parkinson's disease patients (2.9%) than PINK1 missense variants (0%), corroborating other studies worldwide.

Dysphagia and sialorrhea: the relationship to Parkinson's disease.

CONTEXT: Dysphagia and sialorrhea in patients with Parkinson's disease are both automatically accepted as dependent on this neurological disease. OBJECTIVE: The aim were to establish if these two complaints are a consequence or associated manifestations of Parkinson's disease. METHOD: Two Parkinson's diseases groups from the same outpatients' population were studied. Patients in the first group, with dysphagia, were studied by videofluoroscopy. The second, with sialorrhea, were studied by the scintigraphic method, RESULTS: Videofluoroscopic examination of the oral, pharyngeal and esophageal phases of swallowing showed that 94% of Parkinson's diseases patients present, structural causes, not related to Parkinson's diseases, able to produce or intensify the observed disphagia. The scintigraphic examination of Parkinson's diseases patients with sialorrhea showed that there is no increase of serous saliva production. Nevertheless, showed a significantly higher velocity of saliva excretion in the Parkinson's diseases patients. CONCLUSIONS: Dysphagia can be due to the muscular rigidity often present in the Parkinson's diseases patient, or more usually by non Parkinson's disease associated causes. In Parkinson's diseases patients, sialorrhea is produced by saliva retention. Nevertheless, sialorrhea can produce discomfort in swallowing, although without a formal complaint of dysphagia. In this case, subclinical dysphagia must be considered. Sialorrhea is indicative of dysphagia or at least of subclinical dysphagia. As final conclusion, Parkinson's diseases can be an isolated cause of dysphagia and/or sialorrhea, but frequently, a factor unrelated to Parkinson's diseases is the main cause of or at least aggravates the dysphagia.

Dysphagia and sialorrhea

ContextDysphagia and sialorrhea in patients with Parkinson's disease are both automatically accepted as dependent on this neurological disease.ObjectiveThe aim were to establish if these two complaints are a consequence or associated manifestations of Parkinson's disease.MethodTwo Parkinson's diseases groups from the same outpatients' population were studied. Patients in the first group, with dysphagia, were studied by videofluoroscopy. The second, with sialorrhea, were studied by the scintigraphic method,ResultsVideofluoroscopic examination of the oral, pharyngeal and esophageal phases of swallowing showed that 94% of Parkinson's diseases patients present, structural causes, not related to Parkinson's diseases, able to produce or intensify the observed disphagia. The scintigraphic examination of Parkinson's diseases patients with sialorrhea showed that there is no increase of serous saliva production. Nevertheless, showed a significantly higher velocity of saliva excretion in the Parkinson's diseases patients.ConclusionsDysphagia can be due to the muscular rigidity often present in the Parkinson's diseases patient, or more usually by non Parkinson's disease associated causes. In Parkinson's diseases patients, sialorrhea is produced by saliva retention. Nevertheless, sialorrhea can produce discomfort in swallowing, although without a formal complaint of dysphagia. In this case, subclinical dysphagia must be considered. Sialorrhea is indicative of dysphagia or at least of subclinical dysphagia. As final conclusion, Parkinson's diseases can be an isolated cause of dysphagia and/or sialorrhea, but frequently, a factor unrelated to Parkinson's diseases is the main cause of or at least aggravates the dysphagia.

ContextoDisfagia e sialorreia em pacientes com doença de Parkinson são automaticamente entendidos como decorrentes do comprometimento neurológico produzido pela doença de Parkinson.ObjetivoEstabelecer se estas duas queixas são consequências ou manifestações associadas à doença de Parkinson.MétodoDois grupos de pacientes com doença de Parkinson provenientes da mesma população ambulatorial foram estudados. O primeiro grupo com queixa de disfagia foi estudado pelo método videofluoroscópico. Um segundo grupo com sialorreia foi estudado pelo método cintigráfico.ResultadosO exame videofluoroscópico das fases oral, faríngea e esofágica da deglutição mostrou que 94% das disfagias nos pacientes com doença de Parkinson eram devidas a causas estruturais não relacionadas com a doença de Parkinson e capazes de produzir ou intensificar a disfagia observada. Os exames cintigráficos dos pacientes com doença de Parkinson e sialorreia mostraram que não ocorre aumento da produção de saliva. No entanto mostrou significante aumento na velocidade de excreção da saliva nesses pacientes.ConclusõesA disfagia pode ser devido à rigidez muscular frequentemente presente nos pacientes com doença de Parkinson ou mais frequentemente por causas associadas que independem desta. Nos pacientes com doença de Parkinson a sialorreia é produzida pela retenção oral da saliva. Contudo é possível observar queixa de sialorreia sem formal queixa associada de disfagia. Nesses casos, disfagia sub-clínica deve ser considerada. Sialorreia é um indicativo de disfagia ou pelo menos de disfagia sub-clínica. Como conclusão final, a doença de Parkinson pode ser causa isolada de disfagia e ou sialorreia, mas frequentemente um fator não relacionado com a doença de Parkinson pode cursar como a principal causa ou pelo menos como causa agravante da disfagia.

DYSPHAGIA AND SIALORRHEA: the relationship to Parkinson's disease

Context Dysphagia and sialorrhea in patients with Parkinson's disease are both automatically accepted as dependent on this neurological disease. Objective The aim were to establish if these two complaints are a consequence or associated manifestations of Parkinson's disease. Method Two Parkinson's diseases groups from the same outpatients' population were studied. Patients in the first group, with dysphagia, were studied by videofluoroscopy. The second, with sialorrhea, were studied by the scintigraphic method, Results Videofluoroscopic examination of the oral, pharyngeal and esophageal phases of swallowing showed that 94% of Parkinson's diseases patients present, structural causes, not related to Parkinson's diseases, able to produce or intensify the observed disphagia. The scintigraphic examination of Parkinson's diseases patients with sialorrhea showed that there is no increase of serous saliva production. Nevertheless, showed a significantly higher velocity of saliva excretion in the Parkinson's diseases patients. Conclusions Dysphagia can be due to the muscular rigidity often present in the Parkinson's diseases patient, or more usually by non Parkinson's disease associated causes. In Parkinson's diseases patients, sialorrhea is produced by saliva retention. Nevertheless, sialorrhea can produce discomfort in swallowing, although without a formal complaint of dysphagia. In this case, subclinical dysphagia must be considered. Sialorrhea is indicative of dysphagia or at least of subclinical dysphagia. As final conclusion, Parkinson's diseases can be an isolated cause of dysphagia and/or sialorrhea, but frequently, a factor unrelated to Parkinson's diseases is the main cause of or at least aggravates the dysphagia. .

Contexto Disfagia e sialorreia em pacientes com doença de Parkinson são automaticamente entendidos como decorrentes do comprometimento neurológico produzido pela doença de Parkinson. Objetivo Estabelecer se estas duas queixas são consequências ou manifestações associadas à doença de Parkinson. Método Dois grupos de pacientes com doença de Parkinson provenientes da mesma população ambulatorial foram estudados. O primeiro grupo com queixa de disfagia foi estudado pelo método videofluoroscópico. Um segundo grupo com sialorreia foi estudado pelo método cintigráfico. Resultados O exame videofluoroscópico das fases oral, faríngea e esofágica da deglutição mostrou que 94% das disfagias nos pacientes com doença de Parkinson eram devidas a causas estruturais não relacionadas com a doença de Parkinson e capazes de produzir ou intensificar a disfagia observada. Os exames cintigráficos dos pacientes com doença de Parkinson e sialorreia mostraram que não ocorre aumento da produção de saliva. No entanto mostrou significante aumento na velocidade de excreção da saliva nesses pacientes. Conclusões A disfagia pode ser devido à rigidez muscular frequentemente presente nos pacientes com doença de Parkinson ou mais frequentemente por causas associadas que independem desta. Nos pacientes com doença de Parkinson a sialorreia é produzida pela retenção oral da saliva. Contudo é possível observar queixa de sialorreia sem formal queixa associada de disfagia. Nesses casos, disfagia sub-clínica deve ser considerada. Sialorreia é um indicativo de disfagia ou pelo menos de disfagia sub-clínica. Como conclusão final, a doença de Parkinson pode ser ...

Depression in Parkinson's disease: diagnosis and treatment.

The prevalence of non-motor symptoms in Parkinson's disease (PD) is high. Depression varies from 20 to 50% of the PD patients, and is associated with increasing disability. The key characteristics of depression are anhedonia and low mood. The recommended scales for screening purposes are: HAM-D, BDI, HADS, MADRS and GDS. As for measurement of severity: HAM-D, MADRS, BDI and SDS. In cases with mild depression, non-pharmacological intervention is the treatment of choice. In moderate depression, antidepressants are required. The choice of an antidepressant should be based mainly on the comorbidities and unique features of the patient. Evidence for antidepressant effectiveness is seen mostly with amitriptyline and nortriptyline, but one should be cautious in elderly patients. Other antidepressants that can be prescribed are: citalopram, escitalopram, sertraline, bupropion, trazodone, venlafaxine, mirtazapine and duloxetin. The dopaminergic agonist pramipexole is a treatment option.

Paroxysmal dystonia and neuromyelitis optica / Distonia paroxística e neuromielite óptica

Paroxysmal dyskinesias (PD) are thought to be rare movement disorders. The overwhelming majority of reported cases are primary. Secondary PD has seen reported to occur in some conditions, mainly in multiple sclerosis and head trauma. The anatomic origin of the lesion is also rarely seen at the spinal cord. Our objective was to describe four patients with paroxysmal dystonia secondary to spinal lesions during the recovering phase of a neuromyelitis optica (NMO) bout. In the reviewed literature, we do not find any report of PD related to NMO.

Discinesias paroxísticas (DP) são distúrbios do movimento raros. A maioria dos casos relatados é de origem primária. DP secundárias têm sido relatadas em algumas condições, principalmente na esclerose múltipla e no trauma craniano. A origem anatômica da lesão também é raramente observada na medula. O objetivo deste trabalho foi descrever quatro pacientes com distonia paroxística secundária a lesões medulares, ocorrida durante a fase de recuperação do surto de neuromielite óptica (NMO). Na literatura consultada, não encontramos qualquer relato de DP secundárias à NMO.

Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes.

Parkinson's disease is one of the most common neurodegenerative disorders associated with aging, reaching ∼ 2% of individuals over 65 years. Knowledge achieved in the last decade about the genetic basis of Parkinson's disease clearly shows that genetic factors play an important role in the etiology of this disorder. Exon dosage variations account for a high proportion of Parkinson's disease mutations, mainly for PARKIN gene. In the present study, we screened genomic rearrangements in SNCA, PARKIN, PINK1 and DJ-1 genes in 102 Brazilian Parkinson's disease patients with early onset (age of onset ⩽ 50 years), using the multiplex ligation-dependent probe amplification method. Family history was reported by 24 patients, while 78 were sporadic cases. Screening of exon dosage revealed PARKIN and PINK1 copy number variations, but no dosage alteration was found in SNCA and DJ-1 genes. Most of the carriers harbor heterozygous deletions or duplications in the PARKIN gene and only one patient was found to have a deletion in PINK1 exon 1. Data about dosage changes are scarce in the Brazilian population, which stresses the importance of including exon dosage analysis in Parkinson's disease genetic studies.