Subthalamic low beta bursts differ in Parkinson's disease phenotypes.

OBJECTIVE: Parkinson's disease (PD) patients may be categorized into tremor-dominant (TD) and postural-instability and gait disorder (PIGD) motor phenotypes, but the dynamical aspects of subthalamic nucleus local field potentials (STN-LFP) and the neural correlates of this phenotypical classification remain unclear. METHODS: 35 STN-LFP (20 PIGD and 15 TD) were investigated through continuous wavelet transform and machine-learning-based methods. The beta oscillation - the main band associated with motor impairment in PD - dynamics was characterized through beta burst parameters across phenotypes and burst intervals under specific proposed criteria for optimal burst threshold definition. RESULTS: Low-frequency (13-22 Hz) beta burst probability was the best predictor for PD phenotypes (75% accuracy). PIGD patients presented higher average burst duration (p = 0.018), while TD patients exhibited higher burst probability (p = 0.014). Categorization into shorter and longer than 400 ms bursts led to significant interaction between burst length categories and the phenotypes (p < 0.050) as revealed by mixed-effects models. Long burst durations and short bursts probability positively correlated, respectively, with rigidity-bradykinesia (p = 0.029) and tremor (p = 0.038) scores. CONCLUSIONS: Subthalamic low-frequency beta bursts differed between TD and PIGD phenotypes and correlated with motor symptoms. SIGNIFICANCE: These findings improve the PD phenotypes' electrophysiological characterization and may define new criteria for adaptive deep brain stimulation.

High prevalence of self-reported non-motor symptoms and lack of correlation with motor severity in adult patients with idiopathic isolated dystonia.

BACKGROUND: Although abnormal movements and postures are the hallmark of dystonia, non-motor symptoms (NMS) are common and negatively affect quality of life. OBJECTIVES: The aim of this study was to screen dystonia patients for NMS and analyze their association with clinical parameters, including motor disability. METHODS: Adult patients with idiopathic isolated dystonia were interviewed and examined. Dystonia severity was evaluated with the Fahn-Marsden Dystonia Rating Scale and the presence of NMS was assessed using a list of 29 complaints. RESULTS: A hundred and two patients (63.7% female) were enrolled. Dystonia began after 20 years of age in 61.8% and was focal or segmental in 82.8% of patients. Only eight patients (7.8%) had no NMS and 59.8% reported more than five. The most prevalent NMS were pain (72.5%) and anxiety (63.7%), followed by difficulty recalling information (44.1%), sadness/anhedonia (41.2%), and difficulty falling asleep (38.2%). No correlation was found between the total number of NMS and dystonia severity (p = 0.18) or regular botulinum toxin use (p = 0.66). The majority of NMS domains correlated with each other. CONCLUSIONS: Our results confirm a high prevalence of NMS among dystonia patients, even in those with mild motor disability. The pathophysiology of NMS in dystonia remains to be completely understood.

Use of non-invasive stimulation in movement disorders: a critical review.

BACKGROUND: Noninvasive stimulation has been widely used in the past 30 years to study and treat a large number of neurological diseases, including movement disorders. OBJECTIVE: In this critical review, we illustrate the rationale for use of these techniques in movement disorders and summarize the best medical evidence based on the main clinical trials performed to date. METHODS: A nationally representative group of experts performed a comprehensive review of the literature in order to analyze the key clinical decision-making factors driving transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS) in movement disorders. Classes of evidence and recommendations were described for each disease. RESULTS: Despite unavoidable heterogeneities and low effect size, TMS is likely to be effective for treating motor symptoms and depression in Parkinson's disease (PD). The efficacy in other movement disorders is unclear. TMS is possibly effective for focal hand dystonia, essential tremor and cerebellar ataxia. Additionally, it is likely to be ineffective in reducing tics in Tourette syndrome. Lastly, tDCS is likely to be effective in improving gait in PD. CONCLUSIONS: There is encouraging evidence for the use of noninvasive stimulation on a subset of symptoms in selected movement disorders, although the means to optimize protocols for improving positive outcomes in routine clinical practice remain undetermined. Similarly, the best stimulation paradigms and responder profile need to be investigated in large clinical trials with established therapeutic and assessment paradigms that could also allow genuine long-term benefits to be determined.

Electroencephalographic findings among inpatients with COVID-19 in a tertiary hospital from a middle-income country.

BACKGROUND: In 2019, the world witnessed the emergence of a new type of coronavirus - the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The spectrum of coronavirus disease 2019 (COVID-19) is variable, and amongst its manifestations are neurological implications. OBJECTIVE: This report aimed to describe electroencephalographic findings in COVID-19 patients from a general tertiary hospital in São Paulo, Brazil. METHODS: It was a retrospective, observational, and non-interventional study. Data were collected anonymously, comprising inpatients from Mar 1 to Jun 30, 2020, either confirmed (positive RT-PCR) or probable cases (CO-RADS 4/5) who had performed EEG during hospitalization. RESULTS: Twenty-eight patients were enrolled, 17 (60.7%) women and 11 men, with a median age of 58 (minimum and maximum: 18-86; IQR 23.5). COVID-19 diagnosis was confirmed in 22 (78.5%). Twenty-one patients (75%) had severe disease, requiring mechanical ventilation due to acute respiratory distress syndrome (ARDS); 16 (57.1%) patients developed adjunct sepsis throughout hospitalization. There was no specific pattern found for COVID-19 in EEG. No patients presented with status epilepticus or electrographic events; most patients developed an encephalopathic pattern, as seen in most studies, with a high prevalence of altered mental status as an indication for EEG. Adjunct sepsis was associated with higher mortality. CONCLUSIONS: EEG presents as a useful tool in the context of COVID-19, as in other conditions, to differentiate nonconvulsive status epilepticus (NCSE) from encephalopathy and other causes of mental status alterations. Further studies are required to analyze whether there might be a specific EEG pattern to the disease.

Fields of Forel Brain Stimulation Improves Levodopa-Unresponsive Gait and Balance Disorders in Parkinson's Disease.

BACKGROUND: Gait and balance disturbance are challenging symptoms in advanced Parkinson's disease (PD). Anatomic and clinical data suggest that the fields of Forel may be a potential surgical target to treat these symptoms. OBJECTIVE: To test whether bilateral stimulation centered at the fields of Forel improves levodopa unresponsive freezing of gait (FOG), balance problems, postural instability, and falls in PD. METHODS: A total of 13 patients with levodopa-unresponsive gait disturbance (Hoehn and Yahr stage ≥3) were included. Patients were evaluated before (on-medication condition) and 1 yr after surgery (on-medication-on-stimulation condition). Motor symptoms and quality of life were assessed with the Unified Parkinson's Disease Rating scale (UPDRS III) and Quality of Life scale (PDQ-39). Clinical and instrumented analyses assessed gait, balance, postural instability, and falls. RESULTS: Surgery improved balance by 43% (95% confidence interval [CI]: 21.2-36.4 to 35.2-47.1; P = .0012), reduced FOG by 35% (95% CI: 15.1-20.3 to 8.1-15.3; P = .0021), and the monthly number of falls by 82.2% (95% CI: 2.2-6.9 to -0.2-1.7; P = .0039). Anticipatory postural adjustments, velocity to turn, and postural sway measurements also improved 1 yr after deep brain stimulation (DBS). UPDRS III motor scores were reduced by 27.2% postoperatively (95% CI: 42.6-54.3 to 30.2-40.5; P < .0001). Quality of life improved 27.5% (95% CI: 34.6-48.8 to 22.4-37.9; P = .0100). CONCLUSION: Our results suggest that DBS of the fields of Forel improved motor symptoms in PD, as well as the FOG, falls, balance, postural instability, and quality of life.

Subthalamic Nucleus Deep Brain Stimulation Lessens Acquired Dystonia: Report of Two Patients and Systematic Review of Published Cases.

INTRODUCTION: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is an efficient treatment of primary dystonia. Few studies have reported the effect of STN-DBS on secondary or acquired dystonia. METHODS: We reported 2 patients with acquired dystonia treated by subthalamic DBS and followed up for 24 months, besides providing a systematic review and meta-analysis of published series. RESULTS/CONCLUSIONS: Both patients had thalamic vascular or autoimmune lesions within the ventral and the pulvinar nuclei. A reduction of 67.2% on the Burke-Fahn-Marsden Dystonia Rating Scale and 90% improvement in disability scores were shown in the first patient, while the second patient showed a lower reduction in both dystonia symptoms (28.6%) and disability scores (44%). Both patients had a significant mean improvement in the quality of life (62.5% in the first and 57.9% in the second) and were free of drugs postoperatively. A systematic review showed a mean follow-up of 13 months in 19 patients, including our 2 patients. The review showed a significant Burke-Fahn-Marsden Dystonia Scale (BFMDRS) score median reduction of 19 points (52.4%; confidence interval [CI]: 11.0-25.0) and a significant median reduction of 6 points in disability scores (44.5%; 95% CI: 4.0-14.0), thereby improving quality of life. Age at surgery was inversely correlated with postoperative improvement (r = 0.63; p = 0.039). Hemidystonia had a nonsignificant better improvement than generalized dystonia (55.3 vs. 43.5%; p = 0.4433). No association between etiology and postoperative improvement and no serious complications were found. Although few data reported so far, subthalamic DBS is likely efficient for acquired dystonia.

Electroencephalographic findings among inpatients with COVID-19 in a tertiary hospital from a middle-income country / Achados eletroencefalográficos entre pacientes internados com COVID-19 em um hospital terciário de um país em desenvolvimento

ABSTRACT Background: In 2019, the world witnessed the emergence of a new type of coronavirus - the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The spectrum of coronavirus disease 2019 (COVID-19) is variable, and amongst its manifestations are neurological implications. Objective: This report aimed to describe electroencephalographic findings in COVID-19 patients from a general tertiary hospital in São Paulo, Brazil. Methods: It was a retrospective, observational, and non-interventional study. Data were collected anonymously, comprising inpatients from Mar 1 to Jun 30, 2020, either confirmed (positive RT-PCR) or probable cases (CO-RADS 4/5) who had performed EEG during hospitalization. Results: Twenty-eight patients were enrolled, 17 (60.7%) women and 11 men, with a median age of 58 (minimum and maximum: 18-86; IQR 23.5). COVID-19 diagnosis was confirmed in 22 (78.5%). Twenty-one patients (75%) had severe disease, requiring mechanical ventilation due to acute respiratory distress syndrome (ARDS); 16 (57.1%) patients developed adjunct sepsis throughout hospitalization. There was no specific pattern found for COVID-19 in EEG. No patients presented with status epilepticus or electrographic events; most patients developed an encephalopathic pattern, as seen in most studies, with a high prevalence of altered mental status as an indication for EEG. Adjunct sepsis was associated with higher mortality. Conclusions: EEG presents as a useful tool in the context of COVID-19, as in other conditions, to differentiate nonconvulsive status epilepticus (NCSE) from encephalopathy and other causes of mental status alterations. Further studies are required to analyze whether there might be a specific EEG pattern to the disease.

RESUMO Antecedentes: Em 2019, testemunhou-se o surgimento de um novo tipo de coronavírus - o coronavírus associado à síndrome da angústia respiratória tipo 2 (SARS-CoV-2). O espectro da doença associada ao novo coronavírus, a COVID-19, é variável e, dentre suas manifestações, há implicações neurológicas. Objetivos: O presente estudo objetivou descrever achados eletroencefalográficos em pacientes com COVID-19 internados em um hospital terciário em São Paulo. Métodos: Tratou-se de estudo observacional, retrospectivo e não-intervencionista, realizado por meio de coleta anônima e retrospectiva de dados de prontuário médico de pacientes com diagnóstico confirmado (RT-PCR positivo) ou provável (CO-RADS 4 ou 5), que realizaram eletroencefalograma durante internação hospitalar. Resultados: Vinte e oito pacientes foram elencados, 17 (60,7%) mulheres e 11 homens. O diagnóstico de COVID-19 foi confirmado em 22 (78,5%) dos casos. Dos pacientes, 21 (75%) apresentaram a doença, requerendo suporte ventilatório, e 16 (57,1%) desenvolveram sepse sobreposta. Não houve padrão específico de EEG para COVID-19, e nenhum paciente apresentou estado de mal epiléptico ou crise eletrográfica; a maioria desenvolveu padrão de encefalopatia, com alentecimento da atividade cerebral, sendo a alta prevalência de alteração de estado mental a indicação para o exame. A sepse sobreposta foi associada a um pior desfecho, com maior mortalidade. Conclusão: No contexto da COVID-19, o EEG figura como ferramenta importante, auxiliando, como em outras condições, na diferenciação entre estado de mal epiléptico, encefalopatia e outras causas de alteração do estado mental. Estudos adicionais são necessários para avaliar a existência de padrão específico de alteração eletroencefalográfica na COVID-19.

Unusual Presentation in Infratentorial Superficial Siderosis: Acute Intracranial Hypertension.

Superficial siderosis (SS) of the nervous system is a rare acquired condition related to hemosiderin deposits in subpial layers of the brain, brainstem, cerebellum, cranial nerves, and spinal cord, leading to brain iron-mediated neurodegeneration. The cardinal neurological features are slowly progressive hearing loss, ataxia, and pyramidal signs. Here we describe an atypical case of infratentorial SS evolving with acute intracranial hypertension in the absence of typical chronic signs.

Spectral characteristics of subthalamic nucleus local field potentials in Parkinson's disease: Phenotype and movement matter.

Parkinson's disease (PD) is clinically heterogeneous across patients and may be classified in three motor phenotypes: tremor dominant (TD), postural instability and gait disorder (PIGD), and undetermined. Despite the significant clinical characterization of motor phenotypes, little is known about how electrophysiological data, particularly subthalamic nucleus local field potentials (STN-LFP), differ between TD and PIGD patients. This is relevant since increased STN-LFP bandpower at α-ß range (8-35 Hz) is considered a potential PD biomarker and, therefore, a critical setpoint to drive adaptive deep brain stimulation. Acknowledging STN-LFP differences between phenotypes, mainly in rest and movement states, would better fit DBS to clinical and motor demands. We studied this issue through spectral analyses on 35 STN-LFP in TD and PIGD patients during rest and movement. We demonstrated that higher ß2 activity (22-35 Hz) was observed in PIGD only during rest. Additionally, bandpower differences between rest and movement occurred at the α-ß range, but with different patterns as per phenotypes: movement-induced desynchronization concerned lower frequencies in TD (10-20 Hz) and higher frequencies in PIGD patients (21-28 Hz). Finally, when supervised learning algorithms were employed aiming to discriminate PD phenotypes based on STN-LFP bandpower features, movement information had improved the classification accuracy, achieving peak performances when TD and PIGD movement-induced desynchronization ranges were considered. These results suggest that STN-LFP ß-band encodes phenotype-movement dependent information in PD patients.

Rasmussen encephalitis: an older adult presentation?

Rasmussen encephalitis (RE) is a classic disorder in the child age group, and only 10% of cases are described in adults. We bring two proven cases of RE in older adults aged over 55 years. OBJECTIVE: To describe the clinical characteristics, progression, diagnostic assessment, neuropathological findings, and treatment of RE in two clinical cases of patients over 55 years of age. Furthermore, we address progressive cognitive decline as an important feature of the RE presentation in older adults in association with focal epilepsy. METHODS: This is a case series from two tertiary hospitals from São Paulo - Brazil. Retrospective data were collected from one case. Results: Two male individuals aged >55 years with clinical presentation of focal epilepsy along with progressive cognitive deterioration. CONCLUSIONS: RE could be considered the cause of progressive cognitive decline in older adults, especially if focal epilepsy is described together with asymmetrical neuroimaging findings.

A encefalite de Rasmussen (ER) é um distúrbio clássico da faixa etária infantil e apenas 10% dos casos são descritos em adultos. Trazemos dois casos comprovados de ER em idosos, com idade acima de 55 anos de idade. OBJETIVO: Descrever as características clínicas, evolução, avaliação diagnóstica, achados neuropatológicos e tratamento da ER em dois casos clínicos com mais de 55 anos de idade. Além disso, atentar para o declínio cognitivo progressivo como uma característica importante na apresentação ER idosos em associação à epilepsia focal. MÉTODOS: Série de casos de dois Hospitais Terciários em São Paulo, Brasil. Dados retrospectivos foram coletados de um caso. RESULTADOS: Dois indivíduos do sexo masculino com idade >55 anos e apresentação clínica de epilepsia focal associada a deterioração cognitiva progressiva. CONCLUSÃO: A ER pode ser considerada a causa do declínio cognitivo progressivo em idosos, especialmente se for descrita epilepsia focal associada a achados assimétricos em neuroimagem.

Acute Disseminated Encephalomyelitis in COVID-19: presentation of two cases and review of the literature.

BACKGROUND: Neurological manifestations of COVID-19 are still incompletely understood. Neurological manifestations may be due to direct viral effect on neurons and glial cells, to an immune-mediated response to the virus, or to a hypercoagulable state and associated endothelial damage, as well as to severe systemic disease with prolonged intensive care unit stay. OBJECTIVE: To describe two patients with severe SARS-CoV-2 infection and delayed recovery of consciousness after sedation withdrawal, in whom MRI disclosed multifocal white matter brain lesions, compatible with the diagnosis of acute disseminated encephalomyelitis. METHODS: Observational report of two cases of severe COVID-19 infection in patients from two tertiary hospitals in São Paulo, Brazil. RESULTS: These patients underwent neurologic and systemic evaluation for delayed awakening after sedation withdrawal. MRI displayed multifocal centrum semiovale lesions, suggestive of demyelinating inflammation. Cerebrospinal fluid (CSF) polymerase chain reaction (PCR) for SARS-CoV-2 was negative in both cases. CONCLUSION: A recurrent pattern of multifocal white matter lesions can occur in COVID-19 patients, possibly associated with delayed awakening. Additional studies are necessary to elucidate the role of the viral infection and of inflammatory and immune-mediated associated changes in neurological manifestations of COVID-19.

Rasmussen encephalitis: an older adult presentation? / Encefalite de rasmussen: apresentação em idosos?

ABSTRACT. Rasmussen encephalitis (RE) is a classic disorder in the child age group, and only 10% of cases are described in adults. We bring two proven cases of RE in older adults aged over 55 years. Objective: To describe the clinical characteristics, progression, diagnostic assessment, neuropathological findings, and treatment of RE in two clinical cases of patients over 55 years of age. Furthermore, we address progressive cognitive decline as an important feature of the RE presentation in older adults in association with focal epilepsy. Methods: This is a case series from two tertiary hospitals from São Paulo - Brazil. Retrospective data were collected from one case. Results: Two male individuals aged >55 years with clinical presentation of focal epilepsy along with progressive cognitive deterioration. Conclusions: RE could be considered the cause of progressive cognitive decline in older adults, especially if focal epilepsy is described together with asymmetrical neuroimaging findings.

RESUMO. A encefalite de Rasmussen (ER) é um distúrbio clássico da faixa etária infantil e apenas 10% dos casos são descritos em adultos. Trazemos dois casos comprovados de ER em idosos, com idade acima de 55 anos de idade. Objetivo: Descrever as características clínicas, evolução, avaliação diagnóstica, achados neuropatológicos e tratamento da ER em dois casos clínicos com mais de 55 anos de idade. Além disso, atentar para o declínio cognitivo progressivo como uma característica importante na apresentação ER idosos em associação à epilepsia focal. Métodos: Série de casos de dois Hospitais Terciários em São Paulo, Brasil. Dados retrospectivos foram coletados de um caso. Resultados: Dois indivíduos do sexo masculino com idade >55 anos e apresentação clínica de epilepsia focal associada a deterioração cognitiva progressiva. Conclusão: A ER pode ser considerada a causa do declínio cognitivo progressivo em idosos, especialmente se for descrita epilepsia focal associada a achados assimétricos em neuroimagem.

Acute Disseminated Encephalomyelitis in COVID-19: presentation of two cases and review of the literature / Encefalomielite disseminada aguda associada a COVID-19: relato de dois casos e revisão de literatura

ABSTRACT Background: Neurological manifestations of COVID-19 are still incompletely understood. Neurological manifestations may be due to direct viral effect on neurons and glial cells, to an immune-mediated response to the virus, or to a hypercoagulable state and associated endothelial damage, as well as to severe systemic disease with prolonged intensive care unit stay. Objective: To describe two patients with severe SARS-CoV-2 infection and delayed recovery of consciousness after sedation withdrawal, in whom MRI disclosed multifocal white matter brain lesions, compatible with the diagnosis of acute disseminated encephalomyelitis. Methods: Observational report of two cases of severe COVID-19 infection in patients from two tertiary hospitals in São Paulo, Brazil. Results: These patients underwent neurologic and systemic evaluation for delayed awakening after sedation withdrawal. MRI displayed multifocal centrum semiovale lesions, suggestive of demyelinating inflammation. Cerebrospinal fluid (CSF) polymerase chain reaction (PCR) for SARS-CoV-2 was negative in both cases. Conclusion: A recurrent pattern of multifocal white matter lesions can occur in COVID-19 patients, possibly associated with delayed awakening. Additional studies are necessary to elucidate the role of the viral infection and of inflammatory and immune-mediated associated changes in neurological manifestations of COVID-19.

RESUMO Introdução: As manifestações neurológicas causadas pela COVID-19 ainda não estão completamente elucidadas. O comprometimento neurológico pode decorrer de um efeito viral direto em neurônios ou em células gliais, a efeito imunomediado em resposta à infecção viral, ou de um efeito secundário a estados de hipercoagulabilidade e danos endoteliais, assim como decorrente de complicações sistêmicas graves relacionadas a cuidados intensivos prolongados na unidade de terapia intensiva. Objetivo: Descrever dois pacientes com recuperação tardia do nível de consciência após a retirada da sedação associados à infecção grave pelo SARS-CoV-2, que apresentaram lesões multifocais de substância branca, compatíveis com o diagnóstico de encefalomielite disseminada aguda. Métodos: Estudo observacional, com relato de dois casos de infecção grave pela COVID-19, em dois hospitais terciários na cidade de São Paulo, Brasil. Resultados: Os pacientes foram submetidos à investigação sistêmica e neurológica para avaliação de estado alterado de consciência após retirada de sedação. A ressonância magnética de crânio evidenciou lesões multifocais no centro semioval, sugestivos de processo inflamatório desmielinizante. Análise liquórica evidenciou PCR negativo para SARS-CoV-2 em ambos os casos. Conclusão: Lesões multifocais de substância branca podem ocorrer em pacientes com COVID-19, possivelmente associadas a estados alterados de consciência. Estudos adicionais são necessários para determinar o processo fisiopatológico da infecção viral e dos estados inflamatórios e imunomediados na gênese das manifestações neurológicas causadas pela COVID-19.

Myasthenia Gravis Related to Thymic Carcinoma: A Case Study.

Myasthenia gravis and thymoma are often presented in association with ∼10% of myasthenic cases having concomitant thymoma. Thymic carcinoma is one of the rarest/aggressive human epithelial tumors and has no correlation with myasthenia gravis hitherto. Here is provided a clinical case and review of literature on a very rare association of thymic carcinoma (with no sign of thymoma) and myasthenia gravis (antiacetylcholine receptor antibody positive). Two years after thymectomy, clinical evolution was satisfactory. This clinical case elicits hypothesis that thymic carcinoma may be related with myasthenia gravis, what may have good prognostic from oncologic and neurologic perspectives.

Stereotactic Lesion in the Forel's Field H: A 2-Years Prospective Open-Label Study on Motor and Nonmotor Symptoms, Neuropsychological Functions, and Quality of Life in Parkinson Disease.

BACKGROUND: Stereotactic lesion in the Forel's field H (campotomy) was proposed in 1963 to treat Parkinson disease (PD) symptoms. Despite its rationale, very few data on this approach have emerged. Additionally, no study has assessed its effects on nonmotor symptoms, neuropsychological functions and quality of life. OBJECTIVE: To provide a prospective 2-yr assessment of motor, nonmotor, neuropsychological and quality of life variables after unilateral campotomy. METHODS: Twelve PD patients were prospectively evaluated using the Unified Parkinson's Disease Rating Scale (UPDRS), the Dyskinesia Rating Scale and the Parkinson's disease quality of life questionnaire (PDQ39) before campotomy, and after 6 and 24 mo. Nonmotor, neuropsychiatric, neuropsychological and quality of life variables were assessed. The impact of PD on global health was also rated. RESULTS: A significant reduction in contralateral rest tremor (65.7%, P < .001), rigidity (87.8%, P < .001), bradykinesia (68%, P < .001) and axial symptoms (24.2%, P < .05) in offmedication condition led to a 43.9% reduction in UPSDRS III scores 2 yr after campotomy (P < .001). Gait improved by 31.9% (P < .05) and walking time to cover 7 m was reduced by 43.2% (P < .05). Pain decreased by 33.4% (P < .01), while neuropsychiatric and neuropsychological functions did not change. Quality of life improved by 37.8% (P < .05), in line with a 46.7% reduction of disease impact on global health (P < .001). CONCLUSION: A significant 2-yr improvement of motor symptoms, gait performance and pain was obtained after unilateral campotomy without significant changes to cognition. Quality of life markedly improved in parallel with a significant reduction of PD burden on global health.

The prevalence of PRKRA mutations in idiopathic dystonia.

INTRODUCTION: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts. We aimed to investigate the role of PRKRA in patients with dystonia. METHODS: We sequenced PRKRA in 153 unrelated Brazilian patients with idiopathic dystonia. The frequency of novel missense variants was investigated in healthy Brazilian controls and in public databases. Homozygosity in the PRKRA region was assessed through polymorphic markers. RESULTS: PRKRA variants were identified in seven probands with isolated dystonia, including a novel c.C795A variant in compound heterozygosity with the previously described c.C665T variant. Heterozygosity in the gene region was observed in two probands who were homozygous for c.C665T, indicating that this mutation originated from independent events, suggesting a hotspot. CONCLUSION: PRKRA is not an unusual cause of idiopathic dystonia. In this cohort, it was responsible for 4.5% of the total of cases (4.9% of the isolated dystonia cases). The most common phenotype was early-onset isolated focal dystonia followed by generalization, parkinsonism was not observed. This is first report of PRKRA causing adulthood-onset dystonia. Screenings of large cohorts are recommended to investigate the role of this gene in isolated dystonia, as well as in dystonia-parkinsonism cases worldwide.

Catatonia, beyond a psychiatric syndrome.

Although catatonia is a well-known psychiatric syndrome, there are many possible systemic and neurological etiologies. The aim of this case report was to present a case of a patient with cerebral venous sinus thrombosis and infarction in which catatonia was the clinical manifestation of a possible nonconvulsive status epilepticus. To our knowledge, only one such case has been reported in the literature, which had a simplified diagnostic investigation. It is important to correctly recognize the organic cause underlying catatonia in order to treat the patient as soon as possible thereby improving outcome. Therefore, physicians need to update their knowledge on catatonia, recognizing that it can be part of a psychiatric or neurologic condition.

Embora a catatonia seja uma síndrome psiquiátrica bem conhecida, existem várias etiologias possíveis, tanto sistêmicas quanto neurológicas. O objetivo deste relato de caso é apresentar um quadro de trombose venosa central com infarto venoso em que a catatonia foi a manifestação clínica de um possível status não convulsivo. Na concepção dos autores, apenas um caso é encontrado na literatura, porém com uma propedêutica simplificada. É importante o correto reconhecimento das causas orgânicas que podem estar causando a catatonia para que sejam corrigidas assim que possível, melhorando o prognóstico do paciente. Além disso, os médicos precisam atualizar seus conhecimentos sobre a catatonia, uma vez que ela pode ser parte tanto de uma condição psiquiátrica quanto neurológica.

Catatonia, beyond a psychiatric syndrome / Catatonia, além de uma síndrome psiquiátrica

ABSTRACT Although catatonia is a well-known psychiatric syndrome, there are many possible systemic and neurological etiologies. The aim of this case report was to present a case of a patient with cerebral venous sinus thrombosis and infarction in which catatonia was the clinical manifestation of a possible nonconvulsive status epilepticus. To our knowledge, only one such case has been reported in the literature, which had a simplified diagnostic investigation. It is important to correctly recognize the organic cause underlying catatonia in order to treat the patient as soon as possible thereby improving outcome. Therefore, physicians need to update their knowledge on catatonia, recognizing that it can be part of a psychiatric or neurologic condition.

RESUMO Embora a catatonia seja uma síndrome psiquiátrica bem conhecida, existem várias etiologias possíveis, tanto sistêmicas quanto neurológicas. O objetivo deste relato de caso é apresentar um quadro de trombose venosa central com infarto venoso em que a catatonia foi a manifestação clínica de um possível status não convulsivo. Na concepção dos autores, apenas um caso é encontrado na literatura, porém com uma propedêutica simplificada. É importante o correto reconhecimento das causas orgânicas que podem estar causando a catatonia para que sejam corrigidas assim que possível, melhorando o prognóstico do paciente. Além disso, os médicos precisam atualizar seus conhecimentos sobre a catatonia, uma vez que ela pode ser parte tanto de uma condição psiquiátrica quanto neurológica.