Isolated Central Nervous System Vasculitis as a Manifestation of Neurosarcoidosis.

A 62-year-old male presented to our clinic with recurrent fever, skin lesions (petechiae), scleral wounds, and hilar adenomegaly. A diagnosis of sarcoidosis was established, which resolved with corticosteroid treatment. After a few months, the patient developed confusion and behavioral changes, with few objective neurological deficits. Brain magnetic resonance imaging showed slight focal meningeal enhancement (prepontine region). The level of angiotensin-converting enzymes was normal in the serum and increased in the cerebrospinal fluid. The patient was diagnosed with neurosarcoidosis, and corticosteroid treatment was prescribed, yielding good clinical response. Nine months later, the patient presented with multiple ischemic strokes, and arteriography demonstrated multiple distal irregularities in all arterial territories, suggesting cerebral vasculitis. Even with corticosteroids, cyclophosphamide, and intravenous immunoglobulin, the patient died. Vasculitis is rarely seen in association with sarcoidosis, and in this case, no systemic manifestation was observed at the time that the patient developed vasculitis.

Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.

Background: Cerebral palsy (CP) should not be considered a diagnosis, but rather a syndrome related to several etiologies, including, but not limited to, neurological sequelae of a perinatal brain injury. Case report: 24-years-old man with dystonia and delayed motor and cognitive development had been previously diagnosed with CP. Molecular genetic testing identified a heterozygosity variant in GNAO 1 gene. A therapeutic trial with levodopa was started, with improvement of dystonia. Discussion: GNAO1 gene variant disorders share similarities with other causes of CP syndrome, and thus investigation of this variant should be included in instances of CP syndrome without a clear history of previous perinatal brain injury. GNAO1 dystonic phenotype (DYT-GNAO1) should be considered as dopa-responsive dystonia in some cases.

Measurement properties from the Brazilian Portuguese version of the QUIP-RS.

Parkinson's disease (PD) has numerous motor and non-motor symptoms. Among non-motor manifestations impulse control disorders (ICDs) stand out. ICDs include compulsions for gambling, shopping, eating, and sexual behavior, and "related disorders" such as hobbyism, simple motor activities, and dopamine dysregulation syndrome. There is no rating scale translated and adapted transculturally into Brazilian Portuguese language. Therefore, we cross-culturally adapted and investigated the measurement properties of the Brazilian version of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS). Fifty-three patients participated in the study. Inter-evaluator and test-retest (patient and health professional) reliabilities (intraclass correlation coefficient) were all excellent (0.93, 0.93, and 0.99). The internal consistency was high (α = 0.92). The Minimal detectable change (MDC) value was 5.8 (patient) and 2.3 (health professional) points. There was a floor, but no ceiling, effect. In summary, the Brazilian version of the QUIP-RS has high reliability and content validity.

Parkinsonism and Belly Dancer Syndrome in a Patient with Schizophrenia.

Background: Belly dancer syndrome (BDS) and parkinsonian features are rarely described in association as a drug-induced movement disorder. Phenomenology shown: A 62-year-old woman with paranoid schizophrenia presented with bradykinesia, rigidity, rest, and postural tremor, as well as dyskinetic abdominal movements. Educational value: Our case highlights that drug-induced parkinsonism can be associated with other rare movement disorders, such as BDS, with subsequent greater morbidity.

Dupuytren, Ledderhose, and Peyronie Diseases After Primidone Use For Essential Tremor.

INTRODUCTION: Dupuytren, Ledderhose, and Peyronie diseases are chronic fibrotic conditions related to progressive fibrosis of the palmar fascia, plantar fascia, and tunica albuginea, respectively. These conditions have been associated with antiepileptic drug use, mainly phenobarbital and primidone. CASE REPORT: A 71-year-old man developed simultaneous Dupuytren, Ledderhose, and Peyronie diseases after primidone use for essential tremor. CONCLUSIONS: There are a few reports associating barbiturate use to connective tissue disorders, and some suggest that drug withdrawal may result in a better prognosis. Therefore, physicians must be aware of such adverse events when caring for patients on long-term barbiturate use.

Mild cognitive impairment in Parkinson's disease: Characterization and impact on quality of life according to subtype.

AIM: Mild cognitive impairment (MCI) was initially described as a risk factor for Alzheimer's disease. Because of differences in baseline cognitive abilities, MCI in Parkinson's disease (PD; PD-MCI) requires distinct neuropsychological criteria for diagnosis and follow up. In addition to representing a risk factor for PD-related dementia, PD-MCI results in higher morbidity, which can be reduced through early detection. The aim of the present study was to gather data regarding MCI subtypes from neuropsychological profiles and clinical features in PD patients, to evaluate its impact on patients' quality of life according to subtype, and to compare the data with a control (Co) group. METHOD: A total of 149 individuals were selected: 81 controls and 60 patients diagnosed with PD according to the United Kingdom Parkinson's Disease Society Brain Bank criteria. All individuals were submitted to neurological and neuropsychological assessments. RESULTS: The amnestic subtype of MCI was the most common in both the PD and Co groups. PD patients showed greater impairment in MCI than the Co group. The amnestic subtype of PD-MCI was associated with a lower quality of life compared with the non-amnestic group. CONCLUSIONS: The PD group showed worse cognitive performance than the Co group. The amnestic subtype of PD-MCI was associated with the greatest impairment of quality of life. Geriatr Gerontol Int 2019; 19: 497-502.

CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.

Robust evidence on the involvement of genetic factors in the etiology of Parkinson's disease (PD) expands our knowledge about monogenic causes that contribute for this important neurodegenerative disorder. Mutations in the CHCHD2 gene have been linked to autosomal dominant forms of PD, although there is still lack of evidence for CHCHD2 variants leading to the disease in mixed populations as those from South America. To assess the contribution of CHCHD2 as a causal factor for familial PD in Brazil, one of the most heterogeneous populations in the world, we conducted the first molecular analysis of the CHCHD2 gene in a cohort of 122 index cases from Brazilian families with autosomal dominant forms of PD. Genomic DNA was isolated from peripheral blood and the 4 exons of the CHCHD2 gene, and their intron-exon boundaries were analyzed by bidirectional Sanger sequencing. No pathogenic or risk variants were found, suggesting that genetic variants of CHCHD2 are not a common cause of familial PD in Brazilian patients.

Hemicoreia na infância: revisão da literatura com relato de caso / Hemichorea in childhood: literature review with case report

O diagnóstico etiológico de quadros coréicos é amplo e algumas características da apresentação auxiliam no raciocínio diagnóstico, como o tempo de instalação do quadro (agudo/crônico), a distribuição corporal (focal/generalizada) e sintomas associados. Na infância, a principal causa da forma aguda é a coreia de Sydenham. Descrevemos o caso de uma paciente do sexo feminino de 13 anos que apresentou hemicoreia de instalação aguda relacionada a febre reumática, sendo a manifestação dimidiada atípica nesta condição.

There are numerous causes of chorea, and some characteristics of the presentation of this symptom help in the diagnosis reasoning, such as the onset time of the condition (acute/chronic), body distribution (local/generalized), and associated symptoms. In childhood, the main cause of acute chorea is Sydenham chorea. In childhood, the main cause of the acute form is Sydenham chorea. We report a case of a 13-year-old female patient who presented with acute onset hemichorea, being diagnosed with Sydenham's chorea.

Volumetric brain analysis as a predictor of a worse cognitive outcome in Parkinson's disease.

Cognitive impairment in Parkinson's disease (PD) results in significant morbidity and mortality being early diagnosis essential. Identification of patients who are at higher risk of developing cognitive impairment based only on clinical data is not sufficient. To this end, magnetic resonance imaging (MRI) with automatic segmentation, such as FreeSurfer, could be a useful tool with high accuracy because it has histological validation. OBJECTIVES: The objective of this study was to evaluate clinical, neuropsychological and FreeSurfer variables that may be related to worse cognitive outcomes over 18 months in PD patients compared with controls. METHODS: PD patients were recruited according to established inclusion and exclusion criteria as well individuals without any neurological or psychiatric diagnosis and were submitted to the same protocol: neurological, neuropsychological and neuroimaging evaluations. After 18 months, the study subjects were reassessed by neurological and neuropsychological evaluations. RESULTS: Of 171 individuals selected for first evaluation, 96 concluded the study during 18-month follow-up. The PD group presented worse performance in the neuropsychological assessment during both the initial and final evaluations. The results obtained by FreeSurfer revealed a significant reduction (unilateral or bilateral) in the volume of thalamus, caudate nucleus, putamen, hippocampus, amygdala, accumbens, corpus callosum and cerebral gray matter in the PD group. A worse cognitive outcome was more prevalent in the PD group. CONCLUSIONS: Worse cognitive performance documented by neuropsychological assessment in the PD group was correlated with reduced volume of several structures by FreeSurfer analysis and may be a biomarker of cognitive decline.

Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.

Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts and dorsal columns. Genotypic and phenotypic heterogeneity is a hallmark of this group of diseases, which makes proper diagnosis and management often challenging. In this scenario, magnetic resonance imaging (MRI) emerges as a valuable tool to assist in the exclusion of mimicking disorders and in the detailed phenotypic characterization. Some neuroradiological signs have been reported in specific subtypes of HSP and are therefore helpful to guide genetic testing/interpretation. In addition, advanced MRI techniques enable detection of subtle structural abnormalities not visible on routine scans in the spinal cord and brain of subjects with HSP. In particular, quantitative spinal cord morphometry and diffusion tensor imaging look promising tools to uncover the pathophysiology and to track progression of these diseases. In the current review article, we discuss the current use and future perspectives of MRI in the context of HSP.

Partial Body Weight-Supported Treadmill Training in Spinocerebellar Ataxia.

BACKGROUND AND PURPOSE: The motor impairments related to gait and balance have a huge impact on the life of individuals with spinocerebellar ataxia (SCA). Here, the aim was to assess the possibility of retraining gait, improving cardiopulmonary capacity, and challenging balance during gait in SCA using a partial body weight support (BWS) and a treadmill. Also, the effects of this training over functionality and quality of life were investigated. METHODS: Eight SCA patients were engaged in the first stage of the study that focused on gait training and cardiovascular conditioning. From those, five took part in a second stage of the study centered on dynamic balance training during gait. The first and second stages lasted 8 and 10 weeks, respectively, both comprising sessions of 50 min (2 times per week). RESULTS: The results showed that gait training using partial BWS significantly increased gait performance, treadmill inclination, duration of exercise, and cardiopulmonary capacity in individuals with SCA. After the second stage, balance improvements were also found. CONCLUSION: Combining gait training and challenging tasks to the postural control system in SCA individuals is viable, well tolerated by patients with SCA, and resulted in changes in capacity for walking and balance.

Frontal functions in depressed and nondepressed Parkinson's disease patients: impact of severity stages.

Severity of Parkinson's disease (PD) and frontal impairment are positively correlated. Testing frontal functions in depressed/nondepressed PD patients with different severity stages may reveal whether depression leads to this impairment. We aimed to relate severity of PD to frontal functional impairment and to test if negative stimuli/depressive symptoms interfered with frontal tasks. The Stroop test and the Emotional Stroop test were performed by 46 PD patients, 18 of whom were depressed. The Hoehn and Yahr scale assessed severity of the disease. We calculated the difference in seconds for each Stroop card and the interference index (C/D) between depressed and nondepressed patients sharing the same severity of disease. The differences among the groups (depressed and nondepressed) according to the severity of the disease (mild and moderate) were compared using the Mann-Whitney test. The depressed patients had a poorer performance on the test than the nondepressed PD patients, although the difference was not statistically significant. In conclusion, there is a clinically relevant but not statistically significant difference on the performance of frontal tasks between depressed and nondepressed PD patients. Neither depression nor the severity of the disease were determinant to the poorer performance on the Stroop and the Emotional Stroop tests.

[Psychotic syndrome developing into dementia as a clinical manifestation of mitochondrial DNA deletion]. / Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial.

The manifestations of mitochondrial disease are variable, affecting more frequently the organs with high aerobic metabolism in which they are more abundant, for example the nervous system. The beginning of symptoms in general is observed at childhood, but some patients presented on adult age. We present an atypical case associated with mitochondrial DNA deletion. A 39-years-old man with psychiatric symptoms that configured initial clinical picture and only after 12 years of the beginning of symptoms neurological alterations became noticeable. The diagnosis of mitochondrial illness was confirmed by muscle biopsy being documented mitochondrial DNA deletion.

Correlation of MRI Visual Scales with Neuropsychological Profile in Mild Cognitive Impairment of Parkinson's Disease.

Few studies have evaluated magnetic resonance imaging (MRI) visual scales in Parkinson's disease-Mild Cognitive Impairment (PD-MCI). We selected 79 PD patients and 92 controls (CO) to perform neurologic and neuropsychological evaluation. Brain MRI was performed to evaluate the following scales: Global Cortical Atrophy (GCA), Fazekas, and medial temporal atrophy (MTA). The analysis revealed that both PD groups (amnestic and nonamnestic) showed worse performance on several tests when compared to CO. Memory, executive function, and attention impairment were more severe in amnestic PD-MCI group. Overall analysis of frequency of MRI visual scales by MCI subtype did not reveal any statistically significant result. Statistically significant inverse correlation was observed between GCA scale and Mini-Mental Status Examination (MMSE), Montreal Cognitive Assessment (MoCA), semantic verbal fluency, Stroop test, figure memory test, trail making test (TMT) B, and Rey Auditory Verbal Learning Test (RAVLT). The MTA scale correlated with Stroop test and Fazekas scale with figure memory test, digit span, and Stroop test according to the subgroup evaluated. Visual scales by MRI in MCI should be evaluated by cognitive domain and might be more useful in more severely impaired MCI or dementia patients.

Symptoms of depression in patients with mild cognitive impairment in Parkinson's disease.

OBJECTIVE: To investigate the most frequent depressive symptoms and their association with cognition in Parkinson's disease (PD) patients with mild cognitive impairment (MCI). METHODS: 48 patients with PD and 44 controls (CG), aged between 50 and 80 years and with at least 4 years of formal education, all with MCI and none diagnosed with depression, were assessed. Patients and controls were matched for age, education, and Mini-Mental State Examination (MMSE) score. Participants underwent clinical evaluation with a neurologist followed by neuropsychological assessment employing the instruments: MMSE, Clock Drawing Test, Verbal Fluency Test (semantic and phonemic), Figures Memory Test (FMT), Stroop Test, Trail Making Test, Digit Span (WAIS III), Rey Auditory Verbal Learning Test (RAVLT), Hooper Visual Organization Test, and Beck Depression Inventory (BDI). RESULTS: The most frequent depressive symptoms in the PD group were: difficulty working, fatigue and sleep disorders (the latter also being present in CG). BDI score correlated negatively with learning and recognition memory in both groups. Episodic memory, evaluated by the FMT and RAVLT tests, was the cognitive function showing greatest impairment. CONCLUSION: Some of the depressive symptoms observed in PD patients with MCI seem to be attributable to complications of PD, while others are common to both PD and MCI, making differential diagnoses complex but crucial.

OBJETIVO: Investigar os sintomas depressivos mais frequentes e sua associação com a cognição de indivíduos com doença de Parkinson (DP) e declínio cognitivo leve (DCL). MÉTODOS: Foram avaliados 48 pacientes com DP e 44 Controles (GC), com idade entre 50 e 80 anos e escolaridade superior a 4 anos, todos com DCL e sem diagnóstico de depressão. Pacientes e controles foram pareados quanto à idade, escolaridade e pontuação do Mini Exame do Estado Mental (MEEM). Os participantes foram submetidos à avaliação clínica com neurologista seguida de avaliação neuropsicológica com os instrumentos MEEM, Teste do Desenho do Relógio, Teste de Fluência Verbal Semântica e Fonêmica, Teste de Memória de Figuras (FMT), Teste Stroop de Cores e Palavras, Teste das Trilhas (TMT), Span de Dígitos WAIS III, Teste de Aprendizagem Auditivo-Verbal de Rey (RAVLT), Teste de Organização Visual de Hooper e Inventário de Depressão de Beck (BDI). RESULTADOS: Os sintomas depressivos mais frequentes no grupo DP foram dificuldade para trabalhar, fatigabilidade e distúrbios do sono, sendo este comum ao grupo controle. A pontuação do BDI correlacionou-se negativamente com aprendizagem e memória de reconhecimento em ambos os grupos. Neste estudo, a memória episódica, avaliada pelos testes FMT e RAVLT, apresentou-se como a função cognitiva com maior comprometimento. CONCLUSÃO: Alguns sintomas depressivos prevalentes nos Parkinsonianos com DCL podem ser atribuídos à DP, dificultando o diagnóstico diferencial.

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

BACKGROUND: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and GBA genes. In this sense, the clarification of the genotype-phenotype correlations in PD has important implications in predicting prognosis and can contribute to the development of specific therapeutic approaches. METHODS: Here, we conducted the first comparative analysis of motor and non-motor features in 17 LRRK2 and 22 GBA mutation carriers and 93 non-carriers unrelated PD patients from Brazil, a highly admixed population. RESULTS: Significant differences were found between the three groups. LRRK2 PD patients presented more occurrence of familiar history. Resting tremor was observed in a lower frequency in GBA mutation carries. In contrast, gait freezing and dysautonomia was present in lower frequencies in LRRK2 carriers. Besides that, LRRK2 and GBA mutation carriers showed a higher incidence of depressive symptoms and a younger age at onset, when compared to non-carriers. CONCLUSION: Our results suggest that specific mutations in GBA and LRRK2 influence the clinical signs of the disease, with significant implications for handling of specific patient groups.

Botulinum toxin for treatment of Harlequin syndrome.

We described a patient with Harlequin syndrome, a rare neurological condition, characterized by unilateral facial sweating and flushing, who had a good response to botulinum toxin application. She had been submitted to sympathectomy a few years, however she still complained of excessive sweating in the regions mentioned and intense flushing.

Percheron thalamopeduncular syndrome with cervical dystonia: A case report.

Bilateral thalamic infarctions are usually caused by occlusion of the "Artery of Percheron" (AoP). Thalamopeduncular syndrome is among the most common presentations of AoP occlusion. A 59-year-old male presented abrupt decreased level of consciousness. After several weeks, on regaining consciousness, he exhibited oculomotor abnormalities, ataxic gait, cervical dystonia, and cognitive and behavioral changes. Magnetic resonance imaging disclosed thalamic, subthalamic, mammillary and midbrain infarction. Clinical features suggestive of bilateral thalamopeduncular syndrome were identified. Besides the presence of cognitive impairment and behavioral symptoms, cervical dystonia was evident, possibly resulting from interruption of the interconnections among basal ganglia, thalamus, subthalamus, midbrain and cerebellum.

Infartos talâmicos bilaterais são em geral ocasionados por oclusão da "Artéria de Percheron" (AdP). A síndrome talamopeduncular está entre as apresentações clínicas mais comuns da oclusão da AdP. Um homem de 59 anos apresentou rebaixamento abrupto do nível de consciência. Após algumas semanas, ao recobrar a consciência, apresentava anormalidades oculomotoras, marcha atáxica, distonia cervical e alterações cognitivas e comportamentais. A imagem por ressonância magnética evidenciou infartos talâmico, subtalâmico, mamilar e mesencefálico. O quadro clínico foi sugestivo de síndrome talamopeduncular. Além da presença de comprometimento cognitivo e transtornos de comportamento, estava presente distonia cervical, que pode resultar da interrupção das interconexões entre gânglios da base, tálamo, subtálamo, mesencéfalo e cerebelo.

Psychogenic movement disorder in human T-lymphotropic virus type 1 associated myelopathy.

Human T-lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic inflammatory disorder of the spinal cord. Acute cases of HAM/TSP and those complicated by movement disorders are rarely reported. Otherwise, psychiatric disturbances are very frequent in infected patients. It can evolve to psychogenic disorders. The case of a 46-year-old woman with acute HAM/TSP complicated by depression and psychogenic movement disorders (chorea of the hands and dystonia-like facial symptoms) is reported. Brain magnetic resonance imaging revealed non-specific small white matter lesions. The involuntary movements arose suddenly and disappeared when the patient was distracted. Two years of psychotherapy and psychiatric follow-up induced complete remission of the symptoms. The association of psychogenic movement disorders and HAM/TSP, increasing the range of neurological manifestations associated with HTLV-1, is related here. Early diagnosis of psychogenic movement disorders is very important to improve the prognosis and treatment of the two conditions, thereby improving the quality of life of HAM/TSP patients and avoiding irreversible sequelae.