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1.
Arq Neuropsiquiatr ; 82(1): 1-6, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38286431

RESUMO

BACKGROUND: The application of botulinum toxin (BoNT) in the treatment of blepharospasm and hemifacial spasm (HS) is a well-established practice. However, neurology residency programs often rely on real patients for training, which has limitations in terms of patient availability and skill acquisition. OBJECTIVE: Assess the efficacy of a new facial phantom model for acquiring motor skills in BoNT application. METHODS: An anthropomorphic facial phantom model was developed in collaboration with a medical training simulator start-up. A group of seven neurologists and one ophthalmologist with expertise in BoNT application evaluated the model using an adapted learning object review instrument (LORI). The instrument assessed aspects such as: content quality, alignment of learning objectives, feedback and adaptation, motivation, presentation design, and accessibility. RESULTS: The facial phantom model received high scores in the LORI evaluation, with the highest ratings given to alignment with learning objectives and motivation. The model also scored well in terms of accessibility, content quality, and presentation design. However, feedback and adaptation received a lower score due to the static nature of the model. CONCLUSION: The facial phantom model shows promise as a valuable tool for teaching and developing competence in BoNT application for HS and blepharospasm. The model reduces the reliance on real patients for training, providing a broader and safer learning experience for neurology residents. It also provides a realistic learning experience and offers portability, cost-effectiveness, and ease of manufacturing for use in various medical training scenarios. It is an effective and accessible tool for teaching BoNT application.


ANTECEDENTES: A aplicação de toxina botulínica (TxB) no tratamento do blefaroespasmo e do espasmo hemifacial (EH) é uma prática bem estabelecida. No entanto, os programas de residência em neurologia frequentemente dependem de pacientes reais para treinamento, o que apresenta limitações em termos de disponibilidade de pacientes e aquisição de habilidades. OBJETIVO: Avaliar a eficácia de um novo modelo de manequim facial para aquisição de habilidades motoras na aplicação de TxB. MéTODOS: Foi desenvolvido um modelo antropomórfico de manequim facial em coloboração com uma empresa de simuladores de treinamento médico. Um grupo constituído por sete neurologistas e um oftalmologista com experiência em aplicação de TxB avaliou o modelo utilizando um instrumento adaptado de revisão de objeto de aprendizagem (LORI). O instrumento analisou aspectos como: qualidade do conteúdo, alinhamento dos objetivos de aprendizagem, feedback e adaptação, motivação, concepção da apresentação e acessibilidade. RESULTADOS: O modelo de manequim facial obteve pontuações altas na avaliação do LORI com os maiores escores em alinhamento com os objetivos de aprendizagem e motivação. O modelo também obteve boas pontuações em termos de acessibilidade, qualidade do conteúdo e concepção da apresentação. No entanto, o item feedback e adaptação recebeu uma pontuação média mais baixa, devido à natureza estática. CONCLUSãO: O modelo manequim facial mostra-se promissor como uma EH e blefaroespasmo. O modelo reduz a dependência de pacientes reais para treinamento portátil, de baixo custo e de fácil fabricação para uso em diversos cenários de treinamento, proporcionando uma experiência de aprendizagem mais ampla e segura para residentes de neurologia. Além disso, fornece uma experiência de aprendizagem realista e oferece portabilidade, economia e facilidade de fabricação para uso em vários cenários de treinamento médico. É uma ferramenta eficaz e acessível para o ensino da aplicação de TxB.


Assuntos
Blefarospasmo , Toxinas Botulínicas Tipo A , Toxinas Botulínicas , Espasmo Hemifacial , Internato e Residência , Neurologia , Fármacos Neuromusculares , Humanos , Blefarospasmo/tratamento farmacológico
2.
Arq Neuropsiquiatr ; 82(1): 1-6, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38286430

RESUMO

BACKGROUND: Chikungunya is a mosquito-borne disease caused by the chikungunya virus (CHIKV) and can lead to neurological complications in severe cases. OBJECTIVE: This study examined neuroimaging patterns in chikungunya cases during two outbreaks in Brazil to identify specific patterns for diagnosis and treatment of neuro-chikungunya. METHODS: Eight patients with confirmed chikungunya and neurological involvement were included. Clinical examinations and MRI scans were performed, and findings were analyzed by neuroradiologists. Data on age, sex, neurological symptoms, diagnostic tests, MRI findings, and clinical outcomes were recorded. RESULTS: Patients showed different neuroimaging patterns. Six patients exhibited a "clock dial pattern" with hyperintense dotted lesions in the spinal cord periphery. One patient had thickening and enhancement of anterior nerve roots. Brain MRI revealed multiple hyperintense lesions in the white matter, particularly in the medulla oblongata, in six patients. One patient had a normal brain MRI. CONCLUSION: The "clock dial pattern" observed in spinal cord MRI may be indicative of chikungunya-related nervous system lesions. Isolated involvement of spinal cord white matter in chikungunya can help differentiate it from other viral infections. Additionally, distinct brainstem involvement in chikungunya-associated encephalitis, particularly in the rostral region, sets it apart from other arboviral infections. Recognizing these neuroimaging patterns can contribute to early diagnosis and appropriate management of neuro-chikungunya.


ANTECEDENTES: A chikungunya é uma doença transmitida por mosquitos causada pelo vírus chikungunya (CHIKV) e pode levar a complicações neurológicas em casos graves. OBJETIVO: Este estudo examinou padrões de neuroimagem em casos de chikungunya durante dois surtos no Brasil para identificar padrões específicos para o diagnóstico e tratamento de neurochikungunya. MéTODOS: Oito pacientes com chikungunya confirmada e envolvimento neurológico foram incluídos. Exames clínicos e ressonâncias magnéticas (RM) foram realizados, e os achados foram analisados por neurorradiologistas. Dados sobre idade, sexo, sintomas neurológicos, testes diagnósticos, achados de RM e desfechos clínicos foram registrados. RESULTADOS: Os pacientes apresentaram diferentes padrões de neuroimagem. Seis pacientes apresentaram um "padrão de mostrador de relógio" com lesões pontilhadas hiperintensas na periferia da medula espinhal. Um paciente apresentou espessamento e realce das raízes nervosas anteriores. A RM do cérebro revelou múltiplas lesões hiperintensas na substância branca, especialmente no bulbo em seis pacientes. Um paciente apresentou uma RM cerebral normal. CONCLUSãO: O "padrão de mostrador de relógio" observado na RM da medula espinhal pode ser indicativo de lesões do sistema nervoso relacionadas à chikungunya. O envolvimento isolado da substância branca da medula espinhal na chikungunya pode ajudar a diferenciá-la de outras infecções virais. Além disso, o envolvimento distinto do tronco cerebral na encefalite associada à chikungunya, especialmente na região rostral, a distingue de outras infecções por arbovírus. O reconhecimento desses padrões de neuroimagem pode contribuir para o diagnóstico precoce e manejo adequado da neurochikungunya.


Assuntos
Febre de Chikungunya , Vírus Chikungunya , Doenças do Sistema Nervoso , Animais , Humanos , Febre de Chikungunya/complicações , Febre de Chikungunya/diagnóstico por imagem , Doenças do Sistema Nervoso/complicações , Imageamento por Ressonância Magnética , Neuroimagem
3.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;82(1): s00441779037, 2024. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1533826

RESUMO

Abstract Background The application of botulinum toxin (BoNT) in the treatment of blepharospasm and hemifacial spasm (HS) is a well-established practice. However, neurology residency programs often rely on real patients for training, which has limitations in terms of patient availability and skill acquisition. Objective Assess the efficacy of a new facial phantom model for acquiring motor skills in BoNT application. Methods An anthropomorphic facial phantom model was developed in collaboration with a medical training simulator start-up. A group of seven neurologists and one ophthalmologist with expertise in BoNT application evaluated the model using an adapted learning object review instrument (LORI). The instrument assessed aspects such as: content quality, alignment of learning objectives, feedback and adaptation, motivation, presentation design, and accessibility. Results The facial phantom model received high scores in the LORI evaluation, with the highest ratings given to alignment with learning objectives and motivation. The model also scored well in terms of accessibility, content quality, and presentation design. However, feedback and adaptation received a lower score due to the static nature of the model. Conclusion The facial phantom model shows promise as a valuable tool for teaching and developing competence in BoNT application for HS and blepharospasm. The model reduces the reliance on real patients for training, providing a broader and safer learning experience for neurology residents. It also provides a realistic learning experience and offers portability, cost-effectiveness, and ease of manufacturing for use in various medical training scenarios. It is an effective and accessible tool for teaching BoNT application.


Resumo Antecedentes A aplicação de toxina botulínica (TxB) no tratamento do blefaroespasmo e do espasmo hemifacial (EH) é uma prática bem estabelecida. No entanto, os programas de residência em neurologia frequentemente dependem de pacientes reais para treinamento, o que apresenta limitações em termos de disponibilidade de pacientes e aquisição de habilidades. Objetivo Avaliar a eficácia de um novo modelo de manequim facial para aquisição de habilidades motoras na aplicação de TxB. Métodos Foi desenvolvido um modelo antropomórfico de manequim facial em coloboração com uma empresa de simuladores de treinamento médico. Um grupo constituído por sete neurologistas e um oftalmologista com experiência em aplicação de TxB avaliou o modelo utilizando um instrumento adaptado de revisão de objeto de aprendizagem (LORI). O instrumento analisou aspectos como: qualidade do conteúdo, alinhamento dos objetivos de aprendizagem, feedback e adaptação, motivação, concepção da apresentação e acessibilidade. Resultados O modelo de manequim facial obteve pontuações altas na avaliação do LORI com os maiores escores em alinhamento com os objetivos de aprendizagem e motivação. O modelo também obteve boas pontuações em termos de acessibilidade, qualidade do conteúdo e concepção da apresentação. No entanto, o item feedback e adaptação recebeu uma pontuação média mais baixa, devido à natureza estática. Conclusão O modelo manequim facial mostra-se promissor como uma EH e blefaroespasmo. O modelo reduz a dependência de pacientes reais para treinamento portátil, de baixo custo e de fácil fabricação para uso em diversos cenários de treinamento, proporcionando uma experiência de aprendizagem mais ampla e segura para residentes de neurologia. Além disso, fornece uma experiência de aprendizagem realista e oferece portabilidade, economia e facilidade de fabricação para uso em vários cenários de treinamento médico. É uma ferramenta eficaz e acessível para o ensino da aplicação de TxB.

4.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;82(1): s00441779033, 2024. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1533832

RESUMO

Abstract Background Chikungunya is a mosquito-borne disease caused by the chikungunya virus (CHIKV) and can lead to neurological complications in severe cases. Objective This study examined neuroimaging patterns in chikungunya cases during two outbreaks in Brazil to identify specific patterns for diagnosis and treatment of neuro-chikungunya. Methods Eight patients with confirmed chikungunya and neurological involvement were included. Clinical examinations and MRI scans were performed, and findings were analyzed by neuroradiologists. Data on age, sex, neurological symptoms, diagnostic tests, MRI findings, and clinical outcomes were recorded. Results Patients showed different neuroimaging patterns. Six patients exhibited a "clock dial pattern" with hyperintense dotted lesions in the spinal cord periphery. One patient had thickening and enhancement of anterior nerve roots. Brain MRI revealed multiple hyperintense lesions in the white matter, particularly in the medulla oblongata, in six patients. One patient had a normal brain MRI. Conclusion The "clock dial pattern" observed in spinal cord MRI may be indicative of chikungunya-related nervous system lesions. Isolated involvement of spinal cord white matter in chikungunya can help differentiate it from other viral infections. Additionally, distinct brainstem involvement in chikungunya-associated encephalitis, particularly in the rostral region, sets it apart from other arboviral infections. Recognizing these neuroimaging patterns can contribute to early diagnosis and appropriate management of neuro-chikungunya.


Resumo Antecedentes A chikungunya é uma doença transmitida por mosquitos causada pelo vírus chikungunya (CHIKV) e pode levar a complicações neurológicas em casos graves. Objetivo Este estudo examinou padrões de neuroimagem em casos de chikungunya durante dois surtos no Brasil para identificar padrões específicos para o diagnóstico e tratamento de neurochikungunya. Métodos Oito pacientes com chikungunya confirmada e envolvimento neurológico foram incluídos. Exames clínicos e ressonâncias magnéticas (RM) foram realizados, e os achados foram analisados por neurorradiologistas. Dados sobre idade, sexo, sintomas neurológicos, testes diagnósticos, achados de RM e desfechos clínicos foram registrados. Resultados Os pacientes apresentaram diferentes padrões de neuroimagem. Seis pacientes apresentaram um "padrão de mostrador de relógio" com lesões pontilhadas hiperintensas na periferia da medula espinhal. Um paciente apresentou espessamento e realce das raízes nervosas anteriores. A RM do cérebro revelou múltiplas lesões hiperintensas na substância branca, especialmente no bulbo em seis pacientes. Um paciente apresentou uma RM cerebral normal. Conclusão O "padrão de mostrador de relógio" observado na RM da medula espinhal pode ser indicativo de lesões do sistema nervoso relacionadas à chikungunya. O envolvimento isolado da substância branca da medula espinhal na chikungunya pode ajudar a diferenciá-la de outras infecções virais. Além disso, o envolvimento distinto do tronco cerebral na encefalite associada à chikungunya, especialmente na região rostral, a distingue de outras infecções por arbovírus. O reconhecimento desses padrões de neuroimagem pode contribuir para o diagnóstico precoce e manejo adequado da neurochikungunya.

5.
Parkinsonism Relat Disord ; 117: 105897, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37931350

RESUMO

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


Assuntos
Efeitos Psicossociais da Doença , Doença de Parkinson , Humanos , Brasil/epidemiologia , Doença de Parkinson/economia , Inquéritos e Questionários
6.
Front Immunol ; 14: 1256480, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37954587

RESUMO

Background: The frequency of antibodies in autoimmune encephalitis (AIE) may vary in different populations, however, data from developing countries are lacking. To describe the clinical profile of AIE in Brazil, and to evaluate seasonality and predictors of AIE in adult and pediatric patients. Methods: We evaluated patients with possible AIE from 17 centers of the Brazilian Autoimmune Encephalitis Network (BrAIN) between 2018 and 2022. CSF and serum were tested with TBAs and CBAs. Data on clinical presentation, complementary investigation, and treatment were compiled. Seasonality and predictors of AIE in adult and pediatric populations were analyzed. Results: Of the 564 patients, 145 (25.7%) were confirmed as seropositive, 69 (12.23%) were seronegative according to Graus, and 58% received immunotherapy. The median delay to diagnosis confirmation was 5.97 ± 10.3 months. No seasonality variation was observed after 55 months of enrolment. The following antibodies were found: anti-NMDAR (n=79, 54%), anti-MOG (n=14, 9%), anti-LGI1(n=12, 8%), anti-GAD (n=11, 7%), anti-GlyR (n=7, 4%), anti-Caspr2 (n=6, 4%), anti-AMPAR (n=4, 2%), anti-GABA-BR (n=4, 2%), anti-GABA-AR (n=2, 1%), anti-IgLON5 (n=1, 1%), and others (n=5, 3%). Predictors of seropositive AIE in the pediatric population (n=42) were decreased level of consciousness (p=0.04), and chorea (p=0.002). Among adults (n=103), predictors of seropositive AIE were movement disorders (p=0.0001), seizures (p=0.0001), autonomic instability (p=0.026), and memory impairment (p=0.001). Conclusion: Most common antibodies in Brazilian patients are anti-NMDAR, followed by anti-MOG and anti-LGI1. Only 26% of the possible AIE patients harbor antibodies, and 12% were seronegative AIE. Patients had a 6-month delay in diagnosis and no seasonality was found. Findings highlight the barriers to treating AIE in developing countries and indicate an opportunity for cost-effect analysis. In this scenario, some clinical manifestations help predict seropositive AIE such as decreased level of consciousness, chorea, and dystonia among children, and movement disorders and memory impairment among adults.


Assuntos
Doenças Autoimunes do Sistema Nervoso , Coreia , Adulto , Humanos , Criança , Brasil/epidemiologia , Encéfalo , Anticorpos , Receptores de N-Metil-D-Aspartato
11.
Front Neurol ; 13: 758452, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35309586

RESUMO

Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and non-motor symptoms, aside from alterations in the electroencephalogram (EEG) already registered. Non-invasive brain stimulation (NIBS) techniques have been suggested as an alternative rehabilitative therapy, but the neurophysiological changes associated with these techniques are still unclear. We aimed to identify the nature and extent of research evidence on the effects of NIBS techniques in the cortical activity measured by EEG in patients with PD. A systematic scoping review was configured by gathering evidence on the following bases: PubMed (MEDLINE), PsycINFO, ScienceDirect, Web of Science, and cumulative index to nursing & allied health (CINAHL). We included clinical trials with patients with PD treated with NIBS and evaluated by EEG pre-intervention and post-intervention. We used the criteria of Downs and Black to evaluate the quality of the studies. Repetitive transcranial magnetic stimulation (TMS), transcranial electrical stimulation (tES), electrical vestibular stimulation, and binaural beats (BBs) are non-invasive stimulation techniques used to treat cognitive and motor impairment in PD. This systematic scoping review found that the current evidence suggests that NIBS could change quantitative EEG in patients with PD. However, considering that the quality of the studies varied from poor to excellent, the low number of studies, variability in NIBS intervention, and quantitative EEG measures, we are not yet able to use the EEG outcomes to predict the cognitive and motor treatment response after brain stimulation. Based on our findings, we recommend additional research efforts to validate EEG as a biomarker in non-invasive brain stimulation trials in PD.

12.
Arq Neuropsiquiatr ; 80(3): 316-329, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35319667

RESUMO

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.


Assuntos
Neurologia , Doença de Parkinson , Academias e Institutos , Brasil , Consenso , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/terapia
13.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;80(3): 316-329, Mar. 2022. tab
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1383867

RESUMO

ABSTRACT The treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.


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

14.
NeuroRehabilitation ; 49(4): 515-531, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34776426

RESUMO

BACKGROUND: Parkinson's disease (PD) is a progressive neurodegenerative disorder, characterized by cardinal motor symptoms in addition to cognitive impairment. New insights concerning multisite non-invasive brain stimulation effects have been gained, which can now be used to develop innovative treatment approaches. OBJECTIVE: Map the researchs involving multisite non-invasive brain stimulation in PD, synthesize the available evidence and discuss future directions. METHODS: The databases PubMed, PsycINFO, CINAHL, LILACS and The Cochrane Library were searched from inception until April 2020, without restrictions on the date of publication or the language in which it was published. The reviewers worked in pairs and sequentially evaluated the titles, abstracts and then the full text of all publications identified as potentially relevant. RESULTS: Twelve articles met the inclusion criteria. The target brain regions included mainly the combination of a motor and a frontal area, such as stimulation of the primary motor córtex associated with the dorsolateral prefrontal cortex. Most of the trials showed that this modality was only more effective for the motor component, or for the cognitive and/or non-motor, separately. CONCLUSIONS: Despite the results being encouraging for the use of the multisite aproach, the indication for PD management should be carried out with caution and deserves scientific deepening.


Assuntos
Disfunção Cognitiva , Doença de Parkinson , Estimulação Transcraniana por Corrente Contínua , Encéfalo , Córtex Pré-Frontal Dorsolateral , Humanos , Doença de Parkinson/terapia , Estimulação Magnética Transcraniana
18.
Surg Neurol Int ; 12: 432, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34513195

RESUMO

BACKGROUND: Parkinsonism secondary to the treatment of obstructive hydrocephalus due to stenosis of the cerebral aqueduct, with implantation of a ventricular peritoneal (VP) shunt is a rare complication, still poorly described and disseminated in the literature. CASE DESCRIPTION: A 38-year-old male presented a history of moderate-intensity daily headache, which deteriorated 2 months before admission, with no changes in the neurological examination. Magnetic resonance imaging showed hypertensive hydrocephalus associated with cerebral aqueduct stenosis. A VP shunt was performed, an adjustable pressure valve was successfully inserted, and he was discharged asymptomatic. However, months later, he progressed with important symptoms of hypo- and hyper-drainage, which persisted after valve pressure adjustments and even its exchange, culminating into an endoscopic third ventriculostomy (ETV). But soon after, severe Parkinsonian syndrome appeared. Therapy with levodopa and bromocriptine was initiated, revealing a slow response initially but good evolution within 6 months. At present, he presents low-intensity residual tremor, which is well controlled with medications, and has regained independence for daily activities, with minimal motor limitation and no cognitive changes. CONCLUSION: There is still no mechanism that explains the occurrence of Parkinsonian syndrome in these cases. It is suggested that the rostral portion of the midbrain was injured due to abrupt changes in the transtentorial gradient pressure after the ventricular shunt, along with various adjustments in the valve pressure. ETV and early introduction of levodopa therapy in patients who developed postventriculoperitoneal shunt Parkinsonism seems to be the most effective combination, with satisfactory clinical response in the medium/long term.

19.
Arq Neuropsiquiatr ; 79(7): 612-623, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34468500

RESUMO

BACKGROUND: Increasing numbers of mutations causing monogenic forms of Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific genetic profile of Brazilian patients is essential for improving genetic counseling and for selecting patients for clinical trials. OBJECTIVE: We conducted a systematic review to identify genetic studies on Brazilian patients and to set a background for future studies on monogenic forms of PD in Brazil. METHODS: We searched MEDLINE, EMBASE and Web of Science from inception to December 2019 using terms for "Parkinson's disease", "genetics" and "Brazil". Two independent reviewers extracted the data. For the genes LRRK2 and PRKN, the estimated prevalence was calculated for each study, and a meta-analysis was performed. RESULTS: A total of 32 studies were included, comprising 94 Brazilian patients with PD with a causative mutation, identified from among 2,872 screened patients (3.2%). PRKN mutations were causative of PD in 48 patients out of 576 (8.3%). LRRK2 mutations were identified in 40 out of 1,556 patients (2.5%), and p.G2019S was the most common mutation (2.2%). CONCLUSIONS: PRKN is the most common autosomal recessive cause of PD, and LRRK2 is the most common autosomal dominant form. We observed that there was a lack of robust epidemiological studies on PD genetics in Brazil and, especially, that the diversity of Brazil's population had not been considered.


Assuntos
Doença de Parkinson , Brasil , Europa (Continente) , Aconselhamento Genético , Predisposição Genética para Doença , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Mutação , Doença de Parkinson/genética
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