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Background Telemedicine for patients with parkinsonism is feasible, cost-effective and satisfactory. However, the feasibility of this modality of care for this subpopulation is not known in real-life scenarios of developing countries like Brazil. Objective To evaluate the feasibility of telemedicine for patients with parkinsonism in a developing country. Methods A cross-sectional study with patients with parkinsonism treated in the Brazilian public healthcare system. We included 130 patients, who were contacted by telephone; those who could be reached underwent a structured interview for data collection. The primary outcomes were the feasibility of teleconsultations and video consultations, but we also performed a logistic regression regarding the feasibility of a video consultation and associated factors. Results Telemedicine was feasible and accepted by 69 (53.08%) patients regarding teleconsultations and by 50 (38.5%) patients regarding video consultations. Tele-consultations were feasible for 80.2%, and video consultations were feasible for 58.1% of the patients reachable through telephone calls. Having a higher family income was positively correlated with the feasibility for a video consultation while a negative association was observed regarding being married or in a stable union and having a low level of schooling. Conclusions A significant proportion of patients with parkinsonism in a developing country are unreachable, unwilling, or unable to participate in telemedicine. Among the reachable patients, feasibility is higher but still lower than what is reported in studies in developed countries. Family income, level of schooling, and marital status were associated with the feasibility of video consultations. Resumo Antecedentes A telemedicina para pacientes com parkinsonismo é viável, econômica e satisfatória. No entanto, a viabilidade dessa modalidade de atendimento para essa subpopulação não é conhecida no cenário da vida real de países em desenvolvimento como o Brasil. Objetivo Avaliar a viabilidade da telemedicina para pacientes com parkinsonismo em um país em desenvolvimento. Métodos Estudo transversal com pacientes com parkinsonismo atendidos na rede pública de saúde brasileira. Foram incluídos 130 pacientes, que foram contatados por telefone; os que responderam foram submetidos a uma entrevista estruturada para coleta de dados. Os resultados primários foram a viabilidade para teleconsultas e videoconsultas, mas também foi realizada uma regressão logística entre a viabilidade de uma videoconsulta e fatores associados. Resultados A participação em telemedicina era possível ou consentida por 69 (53,08%) dos pacientes com relação a teleconsultas, e por 50 (38,5%) com relação a videoconsultas. As teleconsultas e videoconsultas eram viáveis para 80,2% e 58,1% dos pacientes acessíveis por telefone, respectivamente. Uma maior renda familiar foi positivamente correlacionada com a viabilidade de uma videoconsulta, enquanto uma associação negativa foi observada com relação a ser casado ou estar em união estável e ter baixo grau de escolaridade. Conclusões Uma proporção significativa de pacientes com parkinsonismo em um país em desenvolvimento é inacessível, não quer, ou não pode participar da tele-medicina. Entre os pacientes contatáveis, a viabilidade é maior, mas ainda menor do que a relatada em estudos em países desenvolvidos. Renda familiar, escolaridade e estado civil foram associados à viabilidade das videoconsultas.

Life-space mobility (LSM) is a mobility measure that assesses the physical and social environments through which people move during their daily lives.To characterize LSM among individuals with Parkinson disease and explore the relationship between LSM, self-efficacy, and balance.A cross-sectional study.Movement disorder clinic at a teaching hospital.Eighty-eight participants with Parkinson disease.Not applicable.The dependent variable (LSM) was assessed using the Life-Space Assessment (LSA) instrument. Balance evaluation and balance self-efficacy were assessed using the Mini Balance Evaluation Systems Test (Mini-BESTest) and the Activities-Specific Balance Confidence Scale, respectively. Other variables, such as age, disease staging (Hoehn-Yahr staging system), cognition (Montreal Cognitive Assessment), and depressive symptoms (Beck Depression Inventory-II), were also measured.The mean LSA score was 65.2 (SD: 22.8) and mean age was 63.2 years (SD: 10.5 years). Among the 88 patients, 32 (36.4%) were classified as restricted LSM. Age (p = .03), disease severity (p = .02), cognition (p = .02), and motor subtype (p = .006) were associated with more restricted LSM among participants. A multiple linear regression model demonstrated that LSM can be predicted by balance performance (RAge, disease severity, cognition, motor subtype, balance self-efficacy, and balance performance are associated with LSM. Understanding and improving balance and self-efficacy in people with Parkinson disease could facilitate community mobility and promote functional independence and health maintenance.

Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine.This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations.We searched PubMed and EMBASE until October 2021 using search strings for "PD," "genetics," the main "URP," and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non-European populations. Two levels of independent reviewers identified and extracted information.We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome-wide approach published up to 2021, including URPs.This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. © 2022 International Parkinson and Movement Disorder Society.

IntroductionParkinsonism is one of the most common neurological disorders affecting the elderly. Several population-based studies have determined the epidemiology of parkinsonism, mainly Parkinson’s disease (PD), but there is still little evidence in the Brazilian population. This protocol study aims to assess the prevalence and incidence of cases of PD and other parkinsonian syndromes in a 5-year cohort in a population-based study in the southern region of Brazil.Methods and analysisA prospective population-based longitudinal study, with a cohort of development of cases of parkinsonism, divided into two phases: in phase I, two questionnaires to screen for parkinsonism (Tanner’s questionnaire), Rapid Eyes Movement (REM) sleep behaviour disorder (REM Sleep Behavior Disorder Single-Question Screen) and a short interview will be conducted with all elderly residents of Veranópolis (the first longevity Brazilian county located in the Rio Grande do Sul, Brazil) aged 60 or over. The positive screened cases will be examined independently by at least two movement disorder-trained physicians and prevalence will be determined. A comprehensive evaluation of prodromic symptoms, risk factors and clinical characteristics will be carried out. Subjects with subtle parkinsonism and a sample of healthy subjects will be followed for 5 years in a developmental cohort of parkinsonism cases. For crude incidence, all individuals admitted at the beginning of the study will be re-evaluated.Ethics and disseminationThe study was approved by the research ethics committee of the Hospital de Clínicas de Porto Alegre (protocol n° 4.095.609). All participants provide their informed consent before evaluations. Findings from this survey will be disseminated through peer-reviewed publications and will be presented at conferences.

Background Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson’s disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposmia, rapid eye movement (REM) sleep behavior disorder, constipation, cognitive impairment, and depression. Population studies have identified mutations in GBA1 as the main risk factor for idiopathic PD. The present study sought to evaluate the prevalence of NMS in a cohort of patients with GD type 1 from Southern Brazil. Methodology This is an observational, cross-sectional study, with a convenience sampling strategy. Cognition was evaluated by the Montreal Cognitive assessment (MoCa), daytime sleepiness by the Epworth Scale, depression by the Beck Inventory, constipation by the Unified Multiple System Atrophy Rating Scale, and REM sleep behavior disorder by the Single-Question Screen; hyposmia by the Sniffin’ Sticks. Motor symptoms were assessed with part III of the Unified Parkinson’s Disease Rating Scale. All patients were also genotyped for the GBA1 3′-UTR SNP (rs708606). Results Twenty-three patients (female = 13; on enzyme replacement therapy = 21, substrate reduction therapy = 2) with a mean age of 41.45 ± 15.3 years (range, 22–67) were included. Eight patients were found to be heterozygous for the 3′-UTR SNP (rs708606). Fourteen patients (8 over age 40 years) presented at least one NMS; daytime sleepiness was the most frequent (n = 10). Two patients (aged 63 and 64, respectively) also presented motor symptoms, probably drug-related. Conclusions NMS were prevalent in this cohort. We highlight the importance of a multidisciplinary follow-up focusing on earlier diagnosis of PD, especially for patients with GD type 1 over the age of 40.

Objetivo. Avaliar o impacto na qualidade de vida de portadores da Doença de Parkinson (DP) com risco para disfagia. Método. Parti­ciparam pacientes com DP do ambulatório de Distúrbios do Movi­mento de um hospital de Porto Alegre; com classificação da doença pela escala Hoehn & Yahr; que responderam questionário fonoaudio­lógico, questionário EAT-10 e questionário SWAL-QOL. Resulta­dos. A amostra foi composta de 25 sujeitos: 16 (64%) do sexo mas­culino. A média de idade foi de 64,5 anos e do tempo de doença de 11 anos. 18 (72%) participantes possuem H&Y entre 2 e 3. Houve correlação do questionário SWAL-QOL com o questionário fonoau­diológico, no domínio fadiga com queixa de emagrecimento recente (p=0,01), com mudança na consistência alimentar (p=0,015), com a atual consistência ingerida pelo paciente (p=0,02) e com alteração na fase oral (p=0,04); o domínio duração da alimentação com presença de escape anterior de saliva (p=0,01) e com a consistência referida na queixa (p=0,045); o domínio comunicação com alteração na fase oral (p=0,04) e com alimentação atual (p=0,036) e o domínio frequência dos sintomas com alteração na mastigação (p=0,038). Conclusão. Verificou-se que os portadores de DP com risco para disfagia sofrem impacto na qualidade de vida, principalmente, no domínio da comu­nicação oral.

Introduction Dysphagia is a common symptom in Parkinson's disease (PD) and it has been associated with poor quality of life (QoL), anxiety, depression. Objective The aim of this study was to evaluate the quality of life in individuals with PD before and after SLP therapy. Methods The program consisted of four individual therapy sessions. Each session comprised guidelines regarding food and postural maneuvers (chin down). The Quality of Life in Swallowing Disorders (SWAL-QOL) questionnaire was applied before and after therapy. Results The sample comprised of 10 individuals (8 men), with a mean (SD) age of 62.2 (11.3) years, mean educational attainment of 7.5 (4.3) years, and mean disease duration of 10.7 (4.7) years. Thirty percent of patients were Hoehn and Yahr (H&Y) stage 2, 50% were H&Y stage 3, and 20% were H&Y stage 4. Mean scores for all SWAL-QOL domains increased after the intervention period, with significant pre- to post-therapy differences in total score (p = 0.033) and domain 4 (symptom frequency) (p = 0.025). There was also a bias significance for domain 5 (food selection) (p = 0.095). Conclusion Patients exhibited improvement in swallowing-related quality of life after a SLP therapy program. The earlier in the course of PD, greater the improvement observed after therapy.

Background: Evidence points to the occurrence of cognitive impairment in all stages of PD, constituting a frequent and debilitating symptom, due to high impact on quality of life and mortality of patients. Objective: To correlate cognitive performance with quality of life in PD. Methods: The sample was drawn from a Movement Disorders Clinic of a reference hospital in Porto Alegre. Inclusion criteria were: PD diagnosis, according to the United Kingdom Parkinson's Disease Society Brain Bank criteria for idiopathic PD (Hughes et al. 1992) and patient consent to participate. Patients with other neurological pathologies and those submitted to deep brain stimulation were excluded. The evaluation consisted of a cognitive testing battery (composed of eight tests for assessing cognitive performance), and a questionnaire on quality of life (PDQ-39) and depression (BDI). Results: The sample comprised 85 individuals with PD, with a mean age of 62.9 years (±10.7), mean disease duration of 10.4 years (±5.7), and mean educational level of four years (±4.3). There was a significant relationship between total score on the PDQ and all cognitive tests, showing that poor cognitive performance was correlated with poor quality of life. Moreover, a significant correlation was observed between cognitive tests and depression, H&Y, education level, and age. Conclusion: It may be concluded that the individuals with PD in this sample showed a correlation between poorer quality of life and worse cognitive performance. Poor performance was also correlated with more advanced stage, older age, low level of education and depression. RESUMO Embasamento: As evidências apontam a ocorrência de comprometimento cognitivo em todas as fases da doença de Parkinson (DP), sendo este um sintoma não motor frequente e incapacitante, devido ao alto impacto na qualidade de vida e mortalidade dos pacientes. Objetivo: correlacionar a performance cognitiva com qualidade de vida na DP. Métodos: A amostra foi oriunda de um Ambulatório de Distúrbios do Movimento de um hospital referência de Porto Alegre. Os critérios de inclusão utilizados foram ter diagnóstico de DP e consentir em participar do estudo. Exclui-se pacientes com outras patologias neurológicas ou pacientes com estimulação cerebral profunda. A avaliação foi composta por uma anamnese, bateria de testes cognitivos (composta por oito testes), questionários sobre qualidade de vida (PDQ-39) e depressão (BDI). Resultados: A amostra foi composta por 85 indivíduos com DP, com média de idade de 62,9 anos (±10,7), média do tempo de doença de 10,4 anos (±5,7) e média de escolaridade de 7,4 anos (±4,3). Verificou-se relação significativa entre escore total do PDQ com todos os testes cognitivos, demonstrando que pior performance cognitiva está relacionada com pior qualidade de vida. Além disso, foi observado correlação significativa entre os testes cognitivos com depressão, H&Y, escolaridade e idade. Conclusão: Pode-se concluir que na presente amostra indivíduos com DP apresentaram correlação entre pior qualidade de vida com pior desempenho cognitivo. Isto também foi observado com estágio avançado da doença, idade avançada, baixa escolaridade e depressão.

Insulin and IGF seem to be important players in modulating brain aging. Neurons share more similarities with islet cells than any other human cell type. Insulin and insulin receptors are diffusely found in the brain, especially so in the hippocampus. Caloric restriction decreases insulin resistance, and it is the only proven mechanism to expand lifespan. Conversely, insulin resistance increases with age, obesity, and sedentarism, all of which have been shown to be risk factors for late-onset Alzheimer's disease (AD). Hyperphagia and obesity potentiate the production of oxidative reactive species (ROS), and chronic hyperglycemia accelerates the formation of advanced glucose end products (AGEs) in (pre)diabetes—both mechanisms favoring a neurodegenerative milieu. Prolonged high cerebral insulin concentrations cause microvascular endothelium proliferation, chronic hypoperfusion, and energy deficit, triggeringβ-amyloid oligomerization and tau hyperphosphorylation. Insulin-degrading enzyme (IDE) seems to be the main mechanism in clearingβ-amyloid from the brain. Hyperinsulinemic states may deviate IDE utilization towards insulin processing, decreasingβ-amyloid degradation.

Imipenem, one of the first antibiotics of the carbapenem class, was developed more than 2 decades ago and has been utilized for multi-resistant bacterial infections in more than 26 million patients1. It also has been a life-saving drug, as some bacteria are frequently resistant to other broad-spectrum antibiotics. Imipenem-related encephalopathy was not formally reported, and can be overlooked by practitioners […] Imipenem-associated encephalopathy: alert to physicians

Because lithium exerts neuroprotective effects in preclinical models of polyglutamine disorders, our objective was to assess the safety and efficacy of lithium carbonate (0.5-0.8 milliequivalents per liter) in patients with Machado-Joseph disease (spinocerebellar ataxia type 3 [MJD/SCA3]).For this phase 2, single-center, double-blind, parallel, placebo-controlled trial (ClinicalTrials.gov identifier NCT01096082), 62 patients who had MJD/SCA3 with a disease duration ≤10 years and an independent gait were randomly assigned (1:1) to receive either lithium or placebo.After 24 weeks, 169 adverse events were reported, including 50.3% in the lithium group (P = 1.00; primary safety outcome). Sixty patients (31 in the placebo group and 29 in the lithium group) were analyzed for efficacy (intention-to-treat analysis). Mean progression between groups did not differ according to scores on the Neurological Examination Score for the Assessment of Spinocerebellar Ataxia (NESSCA) after 48 weeks (-0.35; 95% confidence interval, -1.7 to 1.0; primary efficacy outcome). The lithium group exhibited minor progression on the PATA speech-rate (P = 0.002), the nondominant Click Test (P = 0.023), the Spinocerebellar Ataxia Functional Index (P = 0.003), and the Composite Cerebellar Functional Score (P = 0.029).Lithium was safe and well tolerated, but it had no effect on progression when measured using the NESSCA in patients with MJD/SCA3. This slowdown in secondary outcomes deserves further clarification.

Neonatal handling reduces the stress response in adulthood due to a feedback mechanism. The present study analyzed the effects of repeated neonatal environmental intervention (daily handling during the first 10 days after birth) on neuron-, astroglial cell density, and cellular proliferation of the hippocampal (CA1, CA2, and CA3) pyramidal cell layers in female rats. Pups were divided into two groups, nonhandled and handled, which were submitted to repeated handling sessions between postnatal days 1 and 10. Histological and immunohistochemical procedures were used to determine changes in neuron density, astroglial cell density, and cellular proliferation. We found an increase in neuron density in each pyramidal cell layer of the hippocampus (CA1, CA2, and CA3) in female rats (11 and 90 day old) that were handled during the neonatal period. Furthermore, we found an increase in astroglial cell density in both hemispheres of the brain in the handled group. Finally, we observed an increase in cellular proliferation in both hippocampi (CA1, CA2, and CA3) of the brain in female pups (11 days old) handled during the neonatal period. This study demonstrates that an early-life environmental intervention may induce morphological changes in a structure involved with several functions, including the stress response. The results of the current study suggest that neonatal handling may influence the animals' responses to environmental adversities later in life.

Several lines of evidence suggest that neuroimmune mechanisms may be involved in the neurodegenerative process of Parkinson’s disease (PD). Interleukin-6 (IL-6) is increased in the nigrostriatal region and in the cerebrospinal fluid of patients with PD. IL-6 serum level was evaluated in PD patients. The effects of levodopa treatment and disease severity on IL-6 were also studied. The IL-6 levels were similar between PD patients (treated and not treated) and controls. However, there was a negative correlation of IL-6 levels and the activities of daily living scale (P < 0.05), indicating that patients with more severe disease have higher levels of this cytokine. No correlation involving levodopa treatment and IL-6 serum level was found. The results suggest that only marginal effects of IL-6 occur on the peripheral immune system, and that the role of IL-6 and others neuroimmune factors needs to be well elucidated on PD.

The aim of this study was to determine the diagnostic value and agreement analyses between Clinical Dementia Rating (CDR) and dementia diagnostic criteria (gold standard), Blessed Dementia Rating scale (BDRS), and Diagnostic and Statistical Manual of Mental Disorders, 3rd Edition, Revised (DSM III-R) criteria for severity. In a sample of 343 Southern Brazilian participants, CDR was consecutively assessed in 295 dementia patients (Alzheimer disease, vascular dementia, and questionable) and 48 healthy elderly. The National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer's Disease and Related Disorders Association (NINCDS-ADRDA) criteria for probable Alzheimer disease and the National Institute of Neurological Disorders and Stroke and Association Internationale pour la Recherche et l'Enseignement en Neurosciences (NINDS-AIREN) for probable vascular dementia were the gold standard. A battery of cognitive tests and the Mini Mental State Examination (as a screening test at study entry) were also applied. Sensitivity and specificity were obtained through contingency tables. Validity and reliability were measured through kappa coefficient, Kendall b, and percent agreement. CDR agreement among raters was demonstrated by percent agreement. Agreement to gold standard was good (kappa=0.75), as well as to the Blessed scale (kappa=0.73), and excellent to the DSM III-R (kappa=0.78). CDR detection of dementia among healthy elderly or questionable dementia was 86% and 80% sensitive, respectively, and 100% specific for both settings. In conclusion, agreement of CDR global score with the gold standard was good, and diagnostic values were high.

Early-life events can exert profound long-lasting effects on several behaviors such as fear/anxiety, sexual activity, stress responses and reproductive functions. Present study aimed to examine the effects of neonatal handling on the volume and number of cells in the hypothalamic paraventricular nucleus (pPVN, parvocellular and mPVN, magnocellular regions) and the supraoptic nucleus (SON) in female rats at 11 and 90 days of age. Moreover, in the same areas, immunohistochemistry for oxytocin (OT) and glial fibrillary acidic protein (GFAP) were analyzed in the adult animals. Daily handling during the first 10 postnatal days reduced the number of cells in the pPVN and SON at both the 11 and 90 days. Handling decreased the number of OT-positive parvocellular cells in the PVN in adult females. No significant differences were detected on the optical density (OD) of GFAP-positive cells between the handled and nonhandled adult females. The effect of handling on cell loss was observed 24 h after the 10-day handling period and persisted into adulthood, indicating a stable morphological trace. Results suggest that neonatal handling can induce plastic changes in the central nervous system.

Objetivo: Avaliar a concordância da escala CDR com critérios diagnósticos e mini exame do estado mental (MEEM), e correlação com escala de Blessed, numa amostra de pacientes do sul do Brasil. Método: A escala foi avaliada em 269 pacientes com doença de Alzheimer (DA), demência vascular e demência questionável num desenho transversal. Os critérios do NINCDS-ADRDA para provável DA e NINDS-AIREN para p rovável demência vascular foram os padrões-ouro. O MEEM, a escala Blessed para gravidade da demência, o escore isquêmico de Hachinski, e uma bateria de testes cognitivos também foram aplicados. Resultados: A concordância com o padrão-ouro foi boa (kappa=0,73), e com o MEEM em categorias foi moderada (kappa= 0,53). Observou-se correlação significativa da escala CDR com Blessed (r=0,96; p=0,001). Não se observ o u d i f e rença de escolaridade ou de idade entre as categorias da escala CDR. Conclusão: A concordância da CDR foi boa para os critérios diagnósticos e moderada para o MEEM. A escala mostrou validade de construto para gravidade de demência. Não se observou impacto da escolaridade sobre este instrumento. Objective: The objective of the study was the analysis of agreement between the CDR scale with diagnostic criteria and mini mental state examination (MMSE), as well as correlation with Blessed scale, in a sample of Southern Brazilian patients. Method: The CDR scale was cross-sectionaly evaluated in 269 dementia patients Alzheimer’s disease (AD) vascular dementia, and questionable. The NINCDSADRDA criteria for probable AD and the NINDS-AIREN for probable vascular dementia were the gold standard. The MMSE, the Blessed scale, the Hachinski ischemic score, and a battery of cognitive tests were also applied. Results: The agreement to gold standard was good (kappa=0.73), while to MMSE categorized was moderate (kappa=0.53). A significant correlation with the Blessed scale (r=0.96; p=0.001) was observed. Education and age were similar among CDR categories. Conclusion: The global score agreement of the CDR scale with the gold standard was good, and with the MMSE was moderate. We also observed face validity for dementia severity. No impact of education was observed upon CDR global scores.

As paraplegias espásticas hereditárias (PEH) compõem um grupo de doenças geneticamente heterogêneas que se caracterizam pela degeneração progressiva dos tratos corticoespinhais. São clinicamente diferenciadas em formas puras, em que as manifestações se restringem à presença de espasticidade e paresia dos membros inferiores, com eventual envolvimento do controle vesical e hipopalestesia, e em formas complexas, em que outros sinais e sintomas neurológicos e clínicos estão presentes. Entre essas manifestações adicionais se destacam os distúrbios do movimento (DM), que ocorrem devido ao acometimento do sistema motor, envolvendo os sistemas extrapiramidal e cerebelar. A heterogeneidade genética e fenotípica das PEH contribui para dificultar o seu diagnóstico. Reconhecer as principais manifestações clínicas associadas ao fenótipo complexo das PEH é fundamental para a suspeição clínica. Embora úteis, as classificações com base no modo de herança e distinções clínicas entre formas puras e complexas permanecem confusas para o neurologista. Desse modo, pode ser interessante reconsiderar a abordagem prática e a classificação semiológica deste transtorno focando em fenótipos clínicos. Inúmeras publicações de relatos e série de casos vinculando novas manifestações neurológicas e não-neurológicas ao fenótipo da PEH foram divulgadas, porém, os DM, exceto ataxia, nunca foram objeto principal de discussão em uma revisão. Considerando a prevalência de DM em pacientes com PEH, uma Revisão Sistemática sobre o tema é de grande relevância. O presente estudo teve como objetivo realizar uma Revisão Sistemática da literatura com o propósito de descrever as formas de DM descritas como manifestação das PEH. Realizamos uma pesquisa sistemática na literatura publicada nos cinco grandes bancos de dados eletrônicos, PubMed, Embase, Scopus, SciElo e LILACS, que foram acessados entre setembro/2020 e janeiro/2021. Os limites de pesquisa foram definidos para incluir apenas artigos em inglês, publicados em periódicos revisados por pares, durante qualquer período. A revisão considerou ao final 93 artigos que descreviam 150 pacientes com PEH e distúrbios do movimento para análise. A maioria desses casos apresentavam doença com herança autossômica recessiva (85,3%), e 19,3% apresentaram DM como manifestação inicial. Foram descritas várias formas de distonias, tremores, parkinsonismo, discinesias, coréia e mioclonias como apresentações clinicas das PEH, sendo as distonias o problema mais frequente (35% dos casos). Há casos de parkinsonismo, distonia e tremores descritos com boa resposta à levodopa. A maioria dos casos apresentavam alterações nos exames de neuroimagem que já foram associadas as PEH. Não foi possível associar algum tipo genético de PEH a uma apresentação clínica específica de DM. Hereditary spastic paraplegias (HSP) are a group of genetically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. They are clinically differentiated into pure forms, in which the manifestations are restricted to the presence of spasticity and paresis of the lower limbs, with eventual involvement of bladder control and hypopalesthesia, and in complex forms, in which other neurological and clinical signs and symptoms are present. Among these additional manifestations are movement disorders (MD), which occur due to the involvement of the motor system, with involvement of the extrapyramidal and cerebellar systems. The genetic and phenotypic heterogeneity of HSPs contributes to make their diagnosis difficult. Recognizing the main clinical manifestations associated with the complex phenotype of HSP is critical for clinical suspicion. Although useful, classifications based on mode of inheritance and clinical distinctions between pure and complex forms remain confusing to the neurologist. Thus, it may be interesting to reconsider the practical approach and the semiological classification of this disorder by focusing on clinical phenotypes. Numerous publications of case reports and case series linking new neurological and non-neurological manifestations to the phenotype of HSP have been published, but MD, except ataxia, have never been the main subject of discussion in a review. Considering the prevalence of movement disorders in patients with HSP, a Systematic Review on the subject is of great relevance. The present study aimed to carry out a Systematic Review of the literature with the purpose of describing the forms of MD described as a manifestation of HSP. We carried out a systematic search in the literature published in the five electronic databases, PubMed, Embase, Scopus, SciElo and LILACS, which were accessed between September/2020 and January/2021. Search limits were set to include only english-language articles published in peer-reviewed journals during any period. The review considered in the end 93 articles describing 150 patients with HSP and MD for analysis. Most of these cases had disease with autosomal recessive inheritance (85.3%), and 19.3% of them had MD as an initial manifestation. Various forms of dystonia, tremor, parkinsonism, dyskinesias, chorea, and myoclonias were described as clinical presentations of HSP, with dystonia being the most frequent problem (35% of cases). There are cases of parkinsonism, dystonia and tremors described with good response to levodopa. Most of the cases presented alterations in neuroimaging exams that have already been associated with HSP. It was not possible to associate any genetic type of HSP to a specific clinical presentation of MD.

A doença de Parkinson (DP) é a segunda doença neurodegenerativa mais comum do mundo, e seu tratamento atual se baseia principalmente no uso de medicações que facilitam a transmissão dopaminérgica nos núcleos da base. A L-DOPA é a principal medicação usada no tratamento da DP, contudo seu uso crônico está associado ao surgimento de complicações motoras, como as discinesias induzidas por L-DOPA (DIL). As DIL ocorrem em cerca de 50% dos pacientes com DP que usaram LDOPA por cerca de 4 a 6 anos, e podem causar uma série de impactos negativos aos pacientes. Pela incapacidade adicional que esta complicação traz aos pacientes com DP, a definição de fatores que possam predizer o surgimento das DIL é de importância direta para o clínico que prescreve L-DOPA rotineiramente. O objetivo deste estudo foi determinar os principais fatores de risco clínicos e genéticos para o desenvolvimento de DIL em uma casuística de pacientes brasileiros com DP. Um estudo transversal foi realizado em pacientes brasileiros de dois centros (Ribeirão Preto e São Paulo) como parte do projeto \"Latin American Research Consortium on the Genetics of PD\" (LARGE-PD), incluindo apenas pacientes com DP e em uso de L-DOPA. A avaliação foi baseada em um exame neurológico completo e em uma entrevista semi-estruturada feita por um médico neurologista especialista em Distúrbios de Movimentos. A presença de DIL foi considerada se a pontuação fosse >= 1 no item 32 da Parte IV na MDS-UPDRS. Baseados em estudos prévios, nós escolhemos oito polimorfismos tipo single nucleotide polymorphism (SNP) nestes genes: COMT, MAOB, ANKK1, DRD3, DAT1, BDNF, ADORA2A and NOS1. A genotipagem foi realizada através de ensaios TaqMan SNP. Foram realizados modelos de regressão logística e análises de sobrevivência para identificarmos os fatores de risco clínicos e genéticos associados ao surgimento de DIL. Ao todo, foram analisados 199 pacientes (sexo masculino - 59%; idade média 61.8 anos), sendo 96 indivíduos (48.2%) com DIL. Através de um modelo de regressão logística multivariado com 7 variáveis independentes, o fenótipo clínico motor do tipo postural instability with gait disorder (PIGD) (OR 0.17, IC 95% 0.07-0.39; p < 0.001), longos períodos de tratamento com L-DOPA (OR 1.31, IC 95% 1.17-1.47; p < 0.001), altas doses diárias equivalentes de L-DOPA (OR 1.00, IC 95% 1.000-1.002; p = 0.04) e a início precoce dos sintomas da 11 DP (OR 1.04, IC 95% 1.01-1.07; p = 0.009) foram os fatores de risco clínicos mais associados ao surgimento de DIL. Dentre os fatores de risco genéticos, apenas o alelo T do SNP rs1799836 no gene da MAOB esteve associado ao aumento na chance de surgimento de DIL (OR 1.51, IC 95% 1.00-2.28; p = 0.05). Nossos resultados mostraram que a predição de surgimento de DIL em pacientes com DP em uso de L-DOPA pode ser feita através de alguns fatores de risco clínicos (fenótipo clínico motor, duração do tratamento com L-DOPA, dose diária equivalente de L-DOPA e idade de início de sintomas) e genéticos, como o SNPrs1799836 no gene da MAOB. Novos estudos com amostras maiores e desenhos prospectivos longitudinais são necessários para se explorar a associação entre estes preditores e o surgimento de DIL. Parkinson\'s disease (PD) is the second most common neurodegenerative disease in the world, and its treatment is mainly based on drugs involved on dopaminergic neurotransmission in basal ganglia. L-DOPA is the major medication used on the management of PD, but its chronic use is associated with the onset of motor complications, as L-DOPA-induced dyskinesias (LID). LID occur in approximately 50% of patients using L-DOPA over 4 and 6 years, and they cause negative impacts on the quality of life of patients PD. To predict the onset of LID based on clinical and genetic risk may be an useful tool for clinicians which prescribe L-DOPA. The aim of this study was to determinate the main clinical and genetic risk factors for the onset of LID in Brazilian PD patients. A cross-sectional study was conducted with Brazilian PD patients from two centers (Ribeirao Preto and Sao Paulo) as part of the Latin American Research consortium on the Genetics of PD (LARGE-PD), which enrolled only PD patients using L-DOPA. PD patients were submitted to neurological examination and semi-structured interviews performed by movement disorders specialists. Presence of LID was confirmed if UPDRS Part IV had a score >= 1 on item 32. Based on previous studies, we chose eight Single Nucleotide Polymorphisms (SNP) in the following genes: COMT, MAOB, ANKK1, DRD3, DAT1, BDNF, ADORA2A and NOS1. Genotyping was performed using TaqMan SNP genotyping assays. We performed logistic regression and survival analysis to identify clinical and genetic risk factors associated with LID onset We enrolled 199 PD patients (males - 59%; mean age 61.8 years), and 96 patients (48.2%) had LID. At a multivariate model with 7 independent variables, postural instability with gait disorder (PIGD) clinical phenotype (OR 0.17, CI 95% 0.07-0.39; p < 0.001), longer duration of L-DOPA therapy (OR 1.31, Cl 95% 1.17-1.47; p < 0.001), higher L-DOPA equivalent daily doses (OR 1.00, CI 95% 1.000-1.002; p = 0.04), as also as early onset of PD (OR 1.04, CI 95% 1.01-1.07; p = 0.009) were the clinical risk factor more associated with onset of LID. Regarding genetic risk factors, only MAOB SNP rs1799836 was associated with LID, with the T allele increasing the risk of developing LIDs (OR 1.51, CI 95% 1.00-2.28; p = 0.05). Our results showed onset of LID can be predicted based on some clinical (motor clinical phenotype, duration of L-DOPA therapy, L-DOPA equivalent daily dose and age at PD onset) and genetic risk factors, as MAOB SNP rs1799836. Further studies in larger samples, using longitudinal and prospective designs, are needed to explore the association between these predictors and onset of LID.