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A doença de Parkinson (DP) é uma doença neurodegenerativa que apresenta sintomas motores e não motores. Classicamente, manifesta-se com bradicinesia, rigidez e tremores de repouso. A fadiga é um dos sintomas não motores mais debilitantes entre os pacientes com DP, com uma prevalência de 28% a 58%. Sua fisiopatologia e seus impactos na vida do paciente com DP, no entanto, não são ainda plenamente conhecidos. Por isso, o objetivo do presente trabalho é, através de um estudo prospectivo e comparativo, realizado no Centro de Neurociências do Hospital das Clínicas da Universidade Federal de Goiás, localizado em Goiânia, verificar a relação da DP e seus elementos semiológicos com a manifestação da fadiga . Para isso, foram selecionados pacientes do referido centro, variando de 20 a 70 anos, os quais foram divididos em dois grupos, o grupo com doença de Parkinson (GDP) e o sem a doença (GC). Os participantes passaram por avaliações envolvendo diversas escalas: uma avaliação neuropsiquiátrica, a qual incluiu o MMSE para medir seu estado cognitivo global; a HAMD (escala de Hamilton para avaliação da depressão) e o BDI (inventário de depressão de Beck) para avaliar os sintomas depressivos. A avaliação clínica dos pacientes incluiu a Escala Unificada de Avaliação da Doença de Parkinson (UPDRS) e o estágio de Hoehn e Yahr (H&Y). Aplicou-se também a escala de Schwab e England (SE), para avaliação da gravidade motora da doença, bem como seu estágio evolutivo. A presença e a gravidade da fadiga, por sua vez, foram avaliadas com a Escala de Chalder (CFS) e a Escala de Gravidade da Fadiga (FSS), respectivamente. O estudo incluiu 77 sujeitos (40 GDP e 37 GC). Em relação à ESF, os dados não mostraram diferença significativa entre os grupos. Com relação à depressão, foi mais frequente no GDP, nos níveis moderado e grave (ρ = 0,007), para EH, e leve e grave (ρ = 0,016). Já a relação da fadiga com a idade mostrou-se mais presente entre os indivíduos entre 50 e 70 anos. Na relação entre fadiga e tempo de doença, 46,7% tiveram duração igual ou superior a 5 anos, pela ESF, e 50%, no mesmo tempo de doença, apresentaram fadiga extrema. Nas atividades de vida diária (AVD), segundo o SE, 5% dos participantes tiveram 60% de desempenho, 5% tiveram 70%, 65% tiveram 80% e 26% tiveram 90%. Conclui-se, assim, que a fadiga afeta significativamente os pacientes com DP e que ela se relaciona positivamente com sintomas depressivos e perda de capacidade funcional nas AVDs. Nota-se, também, que é mais frequente naqueles pacientes com maior tempo e gravidade da doença. Os dados encontrados no referido centro reproduzem, em escala menor, os dados indicados na literatura científica mais atual, ressaltando a necessidade de se implementarem ferramentas diagnósticas e abordagens terapêuticas combinadas, com foco na melhora na qualidade de vida. Mais estudos, no entanto, são necessários para caracterizar melhor essa realidade.

Apresentação do caso: Paciente do sexo feminino, 61 anos, solteira, cabeleireira, procedente de Goiânia. Relato de ter apresentado crise tônico-clônico-generalizada. Veio encaminhada à serviço hospitalar terciário, onde foi admitida em estado de mal epiléptico. Líquor admissional mostrando citometria 17, proteinorraquia 57, VDRL negativo, glicose 107. FTA-Abs sérico IgM reagente; VDRL sérico reagente. Assumido diagnóstico como neurossífilis, devido terem sido descartadas outras causas, a partir de citometria em líquor e proteinorraquia levemente aumentadas, associado a FTA-Abs IgM (sérico) e VDRL (sérico) reagentes. Instituído tratamento com Ceftriaxone devido indisponibilidade de penicilina cristalina à época em nosso serviço, paciente com melhora do estado de mal epiléptico, e melhora do líquor (citometria 2, proteinorraquia 34). Apresentou ótima evolução, sem sequelas do quadro clínico apresentado. Discussão: Mesmo com VDRL negativo no líquor, o diagnóstico de neurossífilis pôde ser estabelecido devido quadro neurológico associado à VDRL e FTA-Abs reagentes no sangue, além de proteinorraquia aumentada e citometria. Comentários Finais: Ressalta-se que nem todo caso de neurossífilis necessita de VDRL reagente no líquor para definição diagnóstica, e que, em contexto apropriado esse diagnóstico pode ser firmado sem este achado laboratorial. Paciente utilizou o tratamento de segunda linha, e, ainda assim, teve excelente resposta.

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.

A esquistossomose medular é uma das manifestações mais graves da infecção pelo schistosoma mansoni. Esses pacientes apresentam uma síndrome medular ou radicular e, devido à grande variedade de diagnósticos diferenciais, pode ser um desafio. Descrevemos um caso de possível esquistossomose medular, de investigação tardia devido atraso na procura de serviço de saúde pelo paciente, em que o paciente já apresentava extenso acometimento da medula espinhal, e não apenas do cone medular, região geralmente mais acometida por essa entidade.

A doença de Parkinson (DP) é caracterizada, principalmente, por uma disfunção do sistema de gânglios basais, produzindo sintomas motores e não motores. O interesse pelo estudo da musicoterapia no tratamento auxiliar de pacientes com DP baseia-se em evidências científicas que comprovam que a música é capaz de melhorar a marcha e o comportamento dos pacientes. Tem por objetivo descrever os principais benefícios, efeitos e a influência da musicoterapia no tratamento auxiliar da DP, enfatizando a sua eficácia no parâmetro motor dos pacientes. Trata-se de uma revisão integrativa da literatura, com seleção dos estudos nas bases de dados Portal de Periódicos da Capes, PubMed, Scielo e SCOPUS, por meio dos Descritores em Ciências da Saúde (DeCS), nos idiomas português e inglês, no período de 2015 a 2021. De maneira geral, a terapêutica resultou na melhora do equilíbrio postural, bem como no aumento do comprimento do passo do paciente e no aumento da velocidade da marcha, o que levou a uma maior independência funcional, acarretando desfechos positivos na progressão da doença. A musicoterapia tem se tornado uma ferramenta com grande potencial para o tratamento auxiliar da doença de Parkinson. Esse instrumento tem proporcionado melhor qualidade de vida aos pacientes, aliviando os sintomas motores e não motores ao estimular a produção dopaminérgica.

Introdução: Os linfomas cutâneos primários são o segundo subtipo mais comum de Linfoma não Hodgkin extranodal, sendo 75% dos casos de células T. A apresentação mais comum é a Micose Fungoide. Devido ao polimorfismo das lesões cutâneas, evolução insidiosa e padrões histológicos diversos, o diagnóstico é difícil e requer achados histopatológicos específicos em pacientes com clínica sugestiva. O objetivo do trabalho é descrever o longo tempo até a conclusão diagnóstica de um caso de Micose Fungoide em acompanhamento no HU UFJF. Relato de caso: Paciente de 41 anos, sexo masculino, com lesões dermatológicas disseminadas e pruriginosas desde 2014, com morfologia variada ao longo dos anos e diferentes padrões histológicos em biópsias cutâneas. Biópsia de pele realizada em 2018 evidenciou exocitose de linfócitos formando grupamentos intraepidérmicos com imunofenótipo T na imunohistoquímica (CD3+, CD4 + e CD7 negativo). Na ocasião, foi realizada biópsia de linfonodo inguinal suspeito com achado de linfadenopatia dermopática. Diante da hipótese diagnóstica de Micose Fungoide foram iniciadas sessões de PUVA. Paciente apresentou resposta parcial e não sustentada ao tratamento. Uma nova biópsia de pele foi realizada em 2020 com achado epidermotropismo de linfócitos com irregularidade nuclear e halos perinucleares com formação de microabscessos de Pautrier com leve degeneração da camada basal. O imunofenótipo é de células T (CD3+, CD4+ e perda da expressão de CD7). Tomografias de tórax, abdome e pelve sem alterações. Realizada imunofenotipagem de sangue periférico sem atipias linfocitárias. Com base na classificação TNMB, o paciente se encontrava no estágio IIA. Diante da falha terapêutica com terapia direcionada à pele, foi encaminhado para tratamento sistêmico. Discussão: A micose fungoide é o linfoma cutâneo mais comum e tem predominância no sexo masculino, sendo a sexta década de vida a faixa etária mais acometida. A apresentação clínica envolve lesões cutâneas em áreas não fotoexpostas, polimórficas e associada à prurido que compromete a qualidade de vida do paciente. Na fase de placas ocorre infiltrado da derme superficial com epidermotropismo de linfócitos, sendo que aqueles que infiltram a epiderme apresentam mais atipia em comparação aos encontrados na derme. Microabscessos de Pautrier são característicos da doença, porém não são patognomônicos. No período pré-micótico, que pode durar de meses a décadas, as lesões cutâneas são inespecíficas e acompanhadas de histopatologia não diagnóstica, o que dificulta o diagnóstico da doença e atrasa o início do tratamento. Os critérios diagnósticos definidos pela EORTC englobam achados clínicos, histopatológicos, imunobiológicos e imunofenotípicos. O estadiamento é baseado no tipo de lesão e na extensão do acometimento cutâneo, envolvimento de linfonodos e vísceras, além do acometimento do sangue periférico. O tratamento é definido pelo estadiamento e pode ser realizado com terapia direcionada à pele, sistêmica ou uma associação de ambas, porém na maioria dos casos a resposta é parcial e não sustentada. O principal fator de prognóstico é o grau do acometimento cutâneo. Conclusão: O diagnóstico da Micose fungóide é por muitas vezes desafiador. As lesões têm evolução indolente e apresentam vários diagnósticos diferenciais. A histopatologia associada a imunofenotipagem são indispensáveis para o diagnóstico. O tratamento deve ser guiado pelo estadiamento TNMB, porém apresenta baixas taxas de sucesso.

Objective It has been proposed that Tourette syndrome is associated with dysfunction in widespread cortical areas and globus pallidus externus hyperactivity secondary to dopaminergic hyperactivity and serotonergic/dynorphinergic hypoactivity. The main objective of this study was to test this hypothesis by developing an animal model of Tourette syndrome via striatotomy, followed by administration of drugs that mimic the neurotransmitter environment, so as to induce globus pallidus externus hyperactivity. Methods Rats were assigned to 3 groups: stereotactic striatotomy (STT) and striatal sham -lesion (SHAM) groups, treated with anterior and posterior striatum procedures in both hemispheres, and a group of nonoperated animals (NAIVE). Postoperatively, all rodents were blindly administered 3 drug protocols: levodopa/benserazide; levodopa/benserazide/ergotamine/naloxone (MIX); and saline. The animals were filmed at the peak action of these drugs. The videos were evaluated by a single blinded researcher. Results Six types of involuntary movements (IMs) were observed: cephalic, trunk jerks, oromandibular, forepaw jerks, dystonic, and locomotive. The number of animals with IM and the mean number of IM after both levodopa/benserazide and MIX was significantly higher in the STT compared with the SHAM and NAIVE groups. In the SHAM and NAIVE, MIX was superior to levodopa/benserazide in the induction of IM. In the STT, MIX was superior to levodopa/benserazide in the induction of trunk jerks. Appendicular IM were more common after posterior than after anterior striatotomy. Conclusions These results show that striatotomy, followed by administration of levodopa/benserazide alone or associated with ergotamine and naloxone, is efficacious in inducing IM, supporting the hypothesis that led to this study.

Item does not contain fulltext Peripheral inflammation, particularly mediated by monocytes, can cause neuroinflammation in Parkinson's disease (PD). We investigated the mechanism of TLR2-induced cytokine impairment in peripheral monocytes from PD patients and the association between the presence of CD14(+) TLR10(+) monocytes and PD severity. Peripheral blood mononuclear cells from PD patients and healthy individuals were evaluated for TLR expression on monocyte subsets (CD14 and CD16 expression) using flow cytometry. Moreover, cytokines were evaluated using flow cytometry after stimulation with Pam(3) Cys (TLR2/TLR1 agonist) in the absence or presence of neutralizing antibodies to TLR10. The severity of PD was assessed using the unified PD rating scale (UPDRS) and motor activity, anxiety (BAI), depression (BDI), and fatigue (PD Fatigue Scale-16) scales. The frequency of CD14(+) TLR10(+) monocytes and expression intensity of TLR2 and TLR10 were higher in patients with PD than healthy individuals. The frequency of intermediate monocytes (CD14(++) CD16(+) ) was not significantly increased in patients with PD, but was the main monocyte subset expressing TLR10. The TLR2/TLR1-impaired cytokine production (IL-6, TNFα, IL-8, and IL-10) in PD patients was reversed by neutralizing TLR10. The high frequency of total CD14(+) TLR10(+) monocytes was associated with a reduction in the severity of PD according to the evaluation of motor and nonmotor symptoms. Peripheral monocytes from patients with PD showed phenotypic and functional alterations. The expression of TLR10 on monocytes can protect against PD by controlling TLR2-induced cytokine production. Furthermore, data suggested that a low frequency of CD14(+) TLR10(+) monocytes indicates the severity of PD. The results identified new opportunities for the development of novel PD neuroprotective therapies.

Purpose: To investigate the influence of music therapy on the reduction of fatigue in women with breast or gynecological malignant neoplasia during radiotherapy, since it is one of the most frequent side effects of this type of treatment, and may interfere with self-esteem, social activities, and quality of life. Experimental Design: Randomized controlled trial (control group [CG] and music therapy group [MTG]) to assess fatigue, quality of life, and symptoms of depression in women undergoing radiotherapy using the Functional Assessment of Cancer Therapy: Fatigue (FACT-F) version 4, Functional Assessment of Cancer Therapy–General (FACT-G) version 4, and Beck Depression Inventory in 3 separate times, namely, during the first week of radiotherapy, on the week of the intermediary phase, and during the last week of radiotherapy. Individual 30- to 40-minute sessions of music therapy with the presence of a trained music therapist were offered to participants. Results: In this study, 164 women were randomized and 116 (63 CG and 53 MTG) were included in the analyses, with mean age of 52.90 years (CG) and 51.85 years (MTG). Participants in the MTG had an average of 10 music therapy sessions, totaling 509 sessions throughout the study. FACT-F results were significant regarding Trial Outcome Index ( P = .011), FACT-G ( P = .005), and FACT-F ( P = .001) for the MTG compared with the CG. Conclusions: Individual music therapy sessions may be effective to reduce fatigue related to cancer and symptoms of depression, as well as to improve quality of life for women with breast or gynecological cancer undergoing radiotherapy. Further well-designed research studies are needed to adequately determine the effects of music therapy on fatigue.

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.

Alpha-synuclein is a protein that forms a major component of abnormal neuronal aggregates known as Lewy bodies. A particular group of neurodegenerative disorders (NDs) is characterized by the abnormal accumulation of α-synuclein; termed the α-synucleinopathies, this group includes Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). Lysosomal storage diseases have also been linked to α-synuclein toxicity. Several therapeutic targets have been chosen among steps of metabolism of α-synuclein. Reducing α-synuclein synthesis or expression and increasing the clearance can be achieved in many ways. The development of immunotherapeutic approaches targeting α-synuclein has received considerable attention in recent years. The aim of this chapter is to present the α-synucleinopathies, as well as to present the most recent researches about treatment of synucleinopathies based on knowledge of the pathophysiology of α-synuclein pathways.

Objectives: Toll-like receptors (TLRs) are expressed in several immune cells including blood monocytes and resident macrophages, such as microglia in the central nervous system. TLRs recognize pathogen- or damage-associated molecular patterns, leading to the release of inflammatory and toxic molecules, which can contribute to neuroinflammation associated with Parkinson's disease (PD). The aim of this study was to compare the potential of peripheral blood cells from PD patients or healthy subjects to produce cytokines after exposure to TLR agonists, and to investigate TLR2 and TLR4 expression on monocyte subsets. Methods: Twenty-one patients and 21 healthy controls were recruited. Patients were evaluated according to the Unified Parkinson's Disease Rating Scale, and Hoehn and Yahr stage. Cytokines were measured in supernatants of whole blood cultures after incubation with TLR2, TLR4, or TLR7/8 agonists, by cytometric bead array. Expression of CD14, CD16, TLR2, and TLR4 was analyzed by cytometry. Results: Patient blood cells produced lower levels of cytokines in response to TLR2 and also after TLR7/8/R848 activation than controls. Percentages of CD14+CD16+ or CD14+CD16- monocytes and TLR2 and TLR4 expression were similar between patients and controls. Conclusions: Blood leukocyte TLR2 and TLR7/8 responses are impaired in PD. This was neither associated with imbalance in monocyte subsets nor with TLR2/TLR4 expression on these cells. The association between a decreased TLR response in periphery and damage of brain in PD must be further investigated.

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.

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.

To evaluate the cognitive performance of patients with glaucoma and compare it to individuals with Alzheimer’s disease (AD). This is a prospective, cross-sectional and case–control study. All subjects were assessed using the Mini-Mental State Examination (MMSE) and its subtests verbal fluency, word list memory, delayed recall of the word list, word list recognition test, Boston naming and constructive praxis from Consortium to Establish a Registry for Alzheimer’s Disease (CERAD). The results were compared among the groups. A total of 50 healthy elderly with a mean age of 71.2 ± 5.2 years; 41 patients with glaucoma (72.2 ± 4.4 years); and 21 patients with AD (79.0 ± 7.6 years) were included. There was a reduction in all cognitive assessment tests evaluated, both for patients with glaucoma, and for those with AD compared with controls (p

Parkinson’s disease (PD) is an age-related neurodegenerative disease characterized by loss of dopaminergic neurons associated with neuroinflammation. Toll-like receptors (TLRs) are expressed in peripheral blood leukocytes and also in neurons and glial cells mediating inflammation. This study aimed to investigate the peripheral blood leukocyte response to TLR2 and TLR4 agonists in young and elderly PD patients. Two groups of patients with PD were evaluated (≤ 55 years old and ≥ 65 years old), age-matched with healthy controls (n = 26). Severity of PD was evaluated by Unified Parkinson’s Disease Rating Scale (UPDRS). Whole blood cultures were stimulated with lipopolysaccharide (LPS), a TLR4 agonist or Pam3Cys (Pam), a TLR2 agonist. Tumor necrosis factor alpha (TNFα) and interleukin 10 (IL-10) were measured by immunoenzimatic assay. 6 h-TNFα production was increased after TLR4 stimulation, mainly in young PD patients, whereas TLR2-induced TNFα and IL-10 levels were decreased in PD patients independent of age (p

Introduction/Objectives Previous experiments suggest that the striatal sensorimotor territory in rats is located in its dorsolateral region, along the rostrocaudal axis, unlike what has been observed in primates. In the present study, electrical stimulation was performed to investigate the degree of participation of the posterior striatum in its motor territory, its somatotopic organization, and the motor responses evoked by stimulation. Methods Twenty-five rats were submitted to stereotactic stimulation of the posterior striatum under general anesthesia, receiving consecutively four different current intensities. The motor responses observed in the different body parts were registered for later comparison. We considered as threshold the smallest of these current intensities able to evoke a motor response. Results The observed motor responses were qualitatively different for each segment: forepaws: ipsilateral, adduction, and contralateral abduction; hindpaws: ipsilateral, flexion, and contralateral, extension/abduction; trunk, rotation/flexion; and tail, rotation/elevation. High-frequency, small-amplitude distal tremor occurred in the ipsilateral forepaw in 95% of the animals. Progressively larger current intensities were necessary for the induction of motor response in the forepaws, hindpaws, and trunk/tail, in that order. Conclusions The results allowed us to infer the following posterior striatal somatotopic organization: forepaws, posterolaterally, being the contralateral medial to the ipsilateral; trunk/tail, anteromedially; and hindpaws, in an intermediate position, being the contralateral posterior to the ipsilateral. It is suggested that the tremor and the other observed motor responses derive from the excitation of striatal projection neurons and that the striatum may play an important role in the genesis of essential tremor.

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.

Although long known and the most prevalent movement disorder, pathophysiology of essential tremor (ET) remains controversial. The most accepted hypothesis is that it is caused by a dysfunction of the olivocerebellar system. Vilela Filho et al. [2001; Stereotact Funct Neurosurg 77:149–150], however, reported a patient with unilateral hand ET that was completely relieved after a stroke restricted to the contralateral posterior putamen and suggested that ET could be the clinical manifestation of posterior putamen hyperactivity. The present study was designed to evaluate this hypothesis in the most often used model of ET, harmaline-induced tremor in rats. Fifty-four male Wistar rats were randomly distributed into three groups: experimental (EG), surgical control (SCG), and pharmacological control (PCG) groups. EG animals underwent stereotactic unilateral posterior striatotomy. SCG rats underwent sham lesion at the same target. PCG served exclusively as controls for harmaline effects. All animals received, postoperatively, intraperitoneal harmaline, and the induced tremor was video-recorded for later evaluation by a blind observer. Thirteen animals were excluded from the study. Limb tremor was reduced ipsilaterally to the operation in 20 of 21 rats of EG and in two of nine of SCG, being asymmetric in one of 10 of PCG rats. Comparisons between EG × SCG and EG × PCG were statistically significant, but not between SCG × PCG. Limb tremor reduction was greater in anterior than in posterior paws. Lateral lesions yielded better results than medial lesions. These results suggest that the posterior striatum is involved with harmaline-induced tremor in rats and support the hypothesis presented. © 2013 Wiley Periodicals, Inc.

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 ofPARK2andPINK1genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing. We identified six missense variants inPARK2gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified inPINK1gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show thatPARK2point mutations are more common in Brazilian early-onset Parkinson's disease patients (2.9%) thanPINK1missense variants (0%), corroborating other studies worldwide.

The present study, the largest in the literature, was performed to assess the effectiveness and safety of unilateral subthalamic nucleus (STN) lesioning for Parkinson's disease (PD). From August 1999 to September 2000, 21 consecutive patients evaluated pre- and postoperatively by a single examiner were operated. Levodopa intake and dyskinesia, Hoehn & Yahr, Schwab & England and UPDRS motor scores were recorded. Stereotactic CT and MRI and the effects of macrostimulation were used to determine STN coordinates. A single radiofrequency lesion was made (60-75ºC/60"). Concomitant ipsilateral Vim/VOp lesions were made in 8 patients. Using a new technique, we were able to determine the territory of STN involved by the surgical lesion. The Wilcoxon and Mann-Whitney statistical tests were applied to evaluate the surgical results. All recorded parameters showed stable improvement after a mean follow up of 13.5 months. Recurrence occurred in two patients. Contralateral tremor arrest and decrease of rigidity and bradykinesia should be regarded as STN hallmarks to stimulation. Hyperintense lesions in the early-phase MRI seem to be a poor prognostic factor. Lateral territory lesioning correlates with better results. There was no significant difference between the cohorts with and without a Vim/VOp lesion. Dyskinesias happened in two patients (promptly abolished by a Vim/VOp lesion). Other complications were transient and/or rare. In conclusion, STN lesioning is a safe and very effective procedure to treat PD and probably an underutilized operation for those who can not afford the costs of DBS. O presente estudo, o maior da literatura, foi realizado para avaliar a eficácia e segurança da lesão unilateral do NST (núcleo subtalâmico) para o tratamento da DP (doença de Parkinson). Entre agosto de 1999 e setembro de 2000, 21 pacientes consecutivos avaliados pré e pós-operatoriamente por um único examinador foram operados. Os seguintes parâmetros foram avaliados: dose diária de levodopa, discinesia induzida pela levodopa, estadiamento da doença, atividades de vida diária e escores motores da UPDRS. RNM e TC estereotáxicas e os efeitos da estimulação com macroeletrodo foram utilizados na determinação das coordenadas do NST. Uma única lesão por radiofrequência foi realizada (60 - 75ºC / 60"). Lesão concomitante de Vim/VOp ipsilateral foi realizada em 8 pacientes. Utilizando-se uma nova técnica, foi possível estabelecer o território do NST lesado cirurgicamente. Os testes estatísticos de Wilcoxon e Mann-Whitney foram aplicados para avaliar os resultados cirúrgicos. Todos os parâmetros avaliados apresentaram melhora sustentada após seguimento médio de 13.5 meses. Recidiva ocorreu em 2 casos. Abolição do tremor e redução da rigidez e bradicinesia contralaterais devem ser considerados como "marcadores" do NST à estimulação. A presença de lesão hiperintensa na RNM pós-operatória precoce parece ser indicadora de mau prognóstico. Os melhores resultados foram obtidos com a lesão do território lateral do NST. Não houve diferença estatisticamente significante entre os subgrupos com e sem lesão concomitante de Vim /VOp. Discinesia ocorreu em 2 casos, prontamente revertida pela lesão concomitante de Vim/VOp. Outras complicações foram transitórias e/ou raras. Concluindo-se, a lesão unilateral do NST é procedimento seguro e eficaz para o tratamento da DP, tratando-se, de uma cirurgia subutilizada para aqueles que não podem arcar com o elevado custo da estimulação cerebral profunda.

Objetivo. Propomos verificar as relações entre desequilíbrios, déficits cognitivos e dependência funcional de pacientes com diagnóstico provável de Doença de Alzheimer. Método. Utilizamos a Escala de Equilíbrio Funcional de Berg, o teste Timed Up and Go na forma clássica e duas variações, o Mini-Exame do Estado Mental, a Bateria Breve de Rastreio Cognitivo e o questionário de Atividades Funcionais de Pfeffer. Participaram 16 indivíduos (75,2±1,6 anos), em fase moderada da doença. Resultados. O teste de correlação de Pearson constatoucorrelação de moderada magnitude entre as comparações (0,3

Background/Aims: Operation-induced dyskinesia (OID) occurs in approximately 10% of patients submitted to subthalamotomy. The goal of the authors was to determine the possible causes of this feared complication. Methods: The 54 patients who underwent unilateral subthalamotomy were divided into two groups: the OID group (OIDG), composed of 6 patients who developed dyskinesia following the operation, and the control group (CG), consisting of 48 patients who did not present this complication. The two groups were compared regarding age; sex; presence of levodopa-induced dyskinesia (LID) and/or stimulation-induced dyskinesia (SID); side of the operation; territories of the subthalamic nucleus (STN) involved by the lesion, and degree of lesion extension towards the zona incerta (ZI). Results: The lesion involved the dorsolateral territory of the STN and was almost completely restricted to this nucleus in all patients of the OIDG, while it spread to the ZI in all but 1 patient of the CG. SID was significantly (p < 0.05) more frequent in the OIDG. There was also a strong trend favoring LID (p = 0.055). Conclusions: Damage to the dorsolateral territory of the STN and sparing of the ZI seem to be essential for the development of OID. SID and, to a lesser extent, LID are apparently significant risk factors for the development of this complication.

Comments on the paper _x000D_ We are being questioned by our colleagues and patients about a paper published in the Brazilian Journal of Medical and Biological Research by Coimbra and Junqueira (1). The authors analyzed the effect of oral vitamin B2 (riboflavin) and the dietary restriction of red meat in 31 patients with Parkinson’s disease (PD). The authors found that the dietary intervention and the prescription of riboflavin induced a significant improvement in the clinical condition of their patients and [...]

This study was performed to evaluate the effectiveness and safety of unilateral STN lesioning in 23 patients with PD. L-Dopa intake and dyskinesia, Hoehn & Yahr, Schwab & England, and UPDRS motor scores were recorded pre- and postoperatively. Stereotactic MRI and CT and macrostimulation were used to establish target coordinates. A single RF lesion was performed. All patients underwent postoperative MRI. Contralateral tremor arrest and decrease of rigidity and bradykinesia should be regarded as hallmarks to STN stimulation. All recorded parameters were significantly improved after a mean follow-up of 13.5 months. Patients with STN lateral territory lesioning (α 0.05) did better than the others. The recurrence rate was 10%. Two patients developed dyskinesias which were completely resolved by a Vim/VOp lesion. Other significant complications were rare. The authors conclude that unilateral STN lesioning is a safe and very effective procedure to treat PD.

This article reports the recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology for the treatment of Alzheimer's disease (AD) in Brazil, with special focus on cognitive disorders. It constitutes a revision and broadening of the 2005 guidelines based on a consensus involving researchers (physicians and non-physicians) in the field. The authors carried out a search of articles published since 2005 on the MEDLINE, LILACS and Cochrane Library databases. The search criteria were pharmacological and non-pharmacological treatment of cognitive disorders in AD. Studies retrieved were categorized into four classes, and evidence into four levels, based on the 2008 recommendations of the American Academy of Neurology. The recommendations on therapy are pertinent to the dementia phase of AD. Recommendations are proposed for the treatment of cognitive disorders encompassing both pharmacological (including acetyl-cholinesterase inhibitors, memantine and other drugs and substances) and non-pharmacological (including cognitive rehabilitation, physical activity, occupational therapy, and music therapy) approaches. Recommendations for the treatment of behavioral and psychological symptoms of dementia due to Alzheimer's disease are included in a separate article of this edition. Resumo Esse texto apresenta as recomendações da Academia Brasileira de Neurologia, por intermédio do seu Departamento Científico de Neurologia Cognitiva e do Envelhecimento, para o tratamento da doença de Alzheimer (DA) no Brasil, enfocando os transtornos cognitivos. Trata-se de uma revisão ampliada das diretrizes publicadas em 2005, resultada de um consenso envolvendo pesquisadores da área, médicos e não médicos. Os autores realizaram uma busca de artigos publicados a partir de 2005 nas bases MEDLINE, LILACS e Cochrane Library. A busca foi direcionada para tratamento farmacológico e não farmacológico dos transtornos cognitivos da DA. Os estudos foram categorizados em quatro classes e as evidências em quatro níveis, com base nas recomendações da Academia Americana de Neurologia publicadas em 2008. As recomendações terapêuticas referem-se à fase demencial da DA. Apresentam-se recomendações para o tratamento dos transtornos cognitivos, tanto farmacológico (incluindo inibidores da acetilcolinesterase, memantina e outros fármacos e substâncias), como não farmacológico (incluindo reabilitação cognitiva, atividade física, terapia ocupacional e musicoterapia). As recomendações para o tratamento dos sintomas comportamentais e psicológicos da demência da DA são apresentadas em outro artigo desse fascículo.

This article reports the recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology for the treatment of Alzheimer's disease (AD) in Brazil, with special focus on behavioral and psychological symptoms of dementia (BPSD). It constitutes a revision and broadening of the 2005 guidelines based on a consensus involving researchers (physicians and non-physicians) in the field. The authors carried out a search of articles published since 2005 on the MEDLINE, LILACS and Cochrane Library databases. The search criteria were pharmacological and non-pharmacological treatment of the behavioral and psychological symptoms of AD. Studies retrieved were categorized into four classes, and evidence into four levels, based on the 2008 recommendations of the American Academy of Neurology. The recommendations on therapy are pertinent to the dementia phase of AD. Recommendations are proposed for the treatment of BPSD encompassing both pharmacological (including acetyl-cholinesterase inhibitors, memantine, neuroleptics, anti-depressives, benzodiazepines, anti-convulsants plus other drugs and substances) and non-pharmacological (including education-based interventions, physiotherapy, occupational therapy, music therapy, therapy using light, massage and art therapy) approaches. Recommendations for the treatment of cognitive disorders of AD symptoms are included in a separate article of this edition. Resumo Esse texto apresenta as recomendações da Academia Brasileira de Neurologia, por intermédio do seu Departamento Científico de Neurologia Cognitiva e do Envelhecimento, para o tratamento da doença de Alzheimer (DA) no Brasil, enfocando os sintomas comportamentais e psicológicos da demência (SCPD). Trata-se de uma revisão ampliada das diretrizes publicadas em 2005, resultada de um consenso envolvendo pesquisadores da área, médicos e não médicos. Os autores realizaram uma busca de artigos publicados a partir de 2005 nas bases MEDLINE, LILACS e Cochrane Library. A busca foi direcionada para tratamento farmacológico e não farmacológico dos sintomas comportamentais e psicológicos da DA. Os estudos foram categorizados em quatro classes e as evidências em quatro níveis, com base nas recomendações da Academia Americana de Neurologia publicadas em 2008. As recomendações terapêuticas referem-se à fase demencial da DA. Apresentam-se recomendações para o tratamento dos SCPD, tanto farmacológico (incluindo inibidores da acetilcolinesterase, memantina, neurolépticos, antidepressivos, benzodiazepínicos, anticonvulsivantes e outros fármacos e substâncias), como não farmacológico (incluindo intervenções educacionais, fisioterapia, terapia ocupacional, musicoterapia, terapia com luz, massagem e arterapia). As recomendações para o tratamento dos transtornos cognitivos da DA são apresentadas em outro artigo desse fascículo.

Multiple sclerosis (MS) prevalence, in some cities in Brazil, was estimated and was found to range from 0.75 to 30.7/100,000. The reasons for such a large variation in rates of prevalence are not clear, but environment and genetics help to explain this phenomenon. Methods: A cross-sectional study using three sources of case ascertainment to estimate the prevalence of MS in the city of Goiânia in December, 2015. Results: A total of 318 MS patients was found after removing overlapping sources. The prevalence of MS was 22.4/100,000 population. Conclusion: Our study was the first in Goiás and the third in the midwest region, and we found a great increase in the prevalence of MS in the region. It is necessary to perform other studies using the same methodology for a more accurate evaluation of the true prevalence of MS in Brazil.