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BackgroundAlthough Parkinson’s disease is the second most prevalent neurodegenerative disease worldwide, its cost in Brazil – South America’s largest country – is unknown.ObjectiveThe goal of this study was to calculate the average annual cost of Parkinson’s disease in the city of São Paulo (Brazil), with a focus on disease-related motor symptoms.Subjects and methodsThis was a retrospective, cross-sectional analysis using a bottom-up approach (ie, from the society’s perspective). Patients (N=260) at two tertiary public health centers, who were residents of the São Paulo metropolitan area, completed standardized questionnaires regarding their disease-related expenses. We used simple and multiple generalized linear models to assess the correlations between total cost and patient-related, as well as disease-related variables.ResultsThe total average annual cost of Parkinson’s disease was estimated at US$5,853.50 per person, including US$3,172.00 in direct costs (medical and nonmedical) and US$2,681.50 in indirect costs. Costs were directly correlated with disease severity (including the degree of motor symptoms), patients’ age, and time since disease onset.ConclusionIn this study, we determined the cost of Parkinson’s disease in Brazil and observed that disease-related motor symptoms are a significant component of the costs incurred on the public health system, patients, and society in general.

Parkinson's disease (PD) is the second most prevalent neurodegenerative disease worldwide, affecting more than four million people. Typically, it affects individuals above 45, when they are still productive, compromising both aging and quality of life. Therefore, the cost of the disease must be identified, so that the use of resources can be rational and efficient. Additionally, in Brazil, there is a lack of research on the costs of neurodegenerative diseases, such as PD, a gap addressed in this study. This systematic review critically addresses the various methodologies used in original research around the world in the last decade on the subject, showing that costs are hardly comparable. Nonetheless, the economic and social impacts are implicit, and important information for public health agents is provided.

Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors. In this study, we investigated Brazilian early-onset PD (EOPD) patients for mutations in PARK2 and PARK8, exposure to environmental factors and possible correlations between PARK2 polymorphisms, environmental exposure, and disease age of onset. We enrolled 72 EOPD index patients and 81 healthy volunteers. Both groups were investigated for environmental exposure. EOPD patients were screened for PARK2 and PARK8 mutations. PARK2 coding polymorphisms Ser167Asn and Val380Leu were investigated in both groups. Mutations were present in 18% of the patients and in 32% of those with a positive family history. PARK2 mutations represented 12.5% and PARK8 mutations accounted for 5.5% of the mutations. A novel PARK2 mutation (D53X) was identified in 2 patients. A positive correlation was found between EOPD and well water drinking. In patients exposed to well water, a later age of onset was observed for those who carried at least one PARK2 380Leu allele. PARK2 mutations have an important role in EOPD Brazilian patients and PARK8 might be the second most important disease causing gene in this group. Well water drinking exposure represents a risk factor for EOPD and the PARK2 coding polymorphism Val380Leu might be interacting with environmental factors acting as a disease modifier.

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.

Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG) n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG) n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG) n length differences between parent and child (delta-expanded-(CAG) n ) were calculated. Effect of parental age on the (CAG) n instability upon transmission was inferred by correlating delta-expanded-(CAG) n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG) 27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG) 36-39 . In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG) n . Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG) n transmissions were unstable and not associated to parental age.

-Twenty-three patients with Parkinson's disease underwent stereotactic surgery. To study the long-term motor performance, the patients were evaluated at the pre-operative period and at the 1 st , 3 rd , 6 th , and 12 th post-operative months, with the following scales: Unified Parkinson's Disease Rating Scale (UPDRS) motor score and Larsen's Scale for Dyskinesias. The patients under levodopa therapy were assessed both in "on" and "off" periods. Fourteen unilateral ventrolateral thalamotomies (VLT), 4 unilateral posteroventral pallidotomies (PVP), 2 bilateral PVP, and 3 VLT with contralateral PVP were performed. The motor improvement was significant and long-lasting in the "off" period, except for 2 patients. The "on" period quality improved, mainly due to the control of dyskinesias. The improvement of dyskinesias was long-lasting for the majority of the patients. There was no significant decrease in the levodopa dose. Three patients showed permanent complications, but none was severe.KEY WORDS: Parkinson's disease, thalamotomy, pallidotomy.Desempenho motor após palidotomia póstero-ventral e talamotomia ventro-lateral na doença de Parkinson: acompanhamento de um ano RESUMO -Vinte e três pacientes portadores de doença de Parkinson foram submetidos a cirurgia estereotáxica para tratamento da doença. Com o objetivo de estudar o desempenho motor a longo prazo, os pacientes foram avaliados clinicamente no período pré-operatório, no 1°, 3°, 6°, e 12° mês pós-operatório, com as seguintes escalas: Escala Unificada para Doença de Parkinson (Unified Parkinson's Disease Rating Scale-UPDRS), item III, escore motor e com a Escala de Larsen para Discinesias. Os pacientes que utilizavam levodopa foram avaliados nos estados "off" e "on". Foram realizadas 14 talamotomias ventro-laterais (TVL) unilaterais, 4 palidotomias póstero-ventrais (PPV) unilaterais, 2 PPV bilaterais; 3 TVL associadas à PPV contralateral. O benefício motor foi observado de forma significante no estado "off", e manteve-se a longo prazo na maioria dos pacientes, exceto em 2. Houve melhora da qualidade do período "on", devido ao controle das discinesias. A melhora das discinesias se manteve a longo prazo na maioria dos pacientes. As cirurgias não promoveram um decréscimo significante na dose de levodopa.Três pacientes tiveram complicações permanentes, mas nenhuma delas foi considerada grave e nem houve prejuízo funcional importante em decorrência das mesmas. PALAVRAS-CHAVE: doença de Parkinson, talamotomia, palidotomia.Levodopa remains the goldstandard treatment for patients with Parkinson's disease (PD). However, after some years, part of these patients develop complications related to the prolonged use of the drug, such as fluctuations and disabling dyskinesias 1 . In the absence of satisfactory pharmacological therapy, there has been a resurgence of interest for stereotactic surgery in the last

Objective: To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods: We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls). We performed brain magnetic resonance imaging to assess white matter integrity using diffusion tensor imaging, with measurement of fractional anisotropy. Results: We observed a significant decrease of fractional anisotropy in the cortical spinal tracts, corona radiate, corpus callosum, external capsule, thalamic radiations, superior and inferior longitudinal fasciculus, and inferior frontal-occipital fasciculus in the Huntington disease group compared to the control and presymptomatic groups. Reduction of fractional anisotropy is indicative of a degenerative process and axonal loss. There was no statistically significant difference between the presymptomatic and control groups. Conclusion: White matter integrity is affected in huntingtin gene mutation symptomatic individuals, but other studies with larger samples are required to assess its usefulness in the progression of the neurodegenerative process.