Upward Gaze Palsy: a Valuable Sign to Distinguish Spinocerebellar Ataxias.

Spinocerebellar ataxias (SCAs) represent a large group of heredodegenerative diseases, with great phenotypic and genotypic heterogeneity. However, in the clinical neurological practice, some symptoms and signs might help differentiate the SCAs. This study's aims were to evaluate the frequency of upward gaze palsy (UGP) and investigate its role in assisting in the clinical differentiation of SCAs. We included 419 patients with SCAs (248 with SCA3, 95 with SCA10, 38 with SCA2, 22 with SCA1, 12 with SCA7, and 4 with SCA6). This study compared UGP with other known markers of disease severity-age of onset, disease duration, SARA score, and size of CAG expansion, and also other semiologic features, as bulging eyes. This sign was significantly more prevalent in SCA3 (64.11%), compared with SCA10 (3.16%; p < 0.001) and other SCAs (SCA1, SCA2, SCA7-11.84%; p < 0.001). UGP showed very high sensibility ins SCA3 (92.9), although lacking of specificity (64.1%). The odds ratio (OR) of UGP were also very high, 23.52 (95% CI 12.38-44.69), and was significantly correlated with larger CAG expansions, age, and disease duration in SCA3 patients, but not with age of onset or severity of the ataxic syndrome. This study showed that UGP is highly suggestive of SCA3 and has high sensitivity for the differential diagnosis among SCAs, and it could be of great value for bedside semiologic tool.

Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and epilepsy. The aims of this study were to characterize the phenotypic expression of SCA10 and to examine its genotype-phenotype relationships. Ninety-one Brazilian patients with SCA10 from 16 families were selected. Clinical and epidemiological data were assessed by a standardized protocol, and severity of disease was measured by the Scale for the Assessment and Rating of Ataxia (SARA). The mean age of onset of symptoms was 34.8 ± 9.4 years. Sixty-two (68.2%) patients presented exclusively with pure cerebellar ataxia. Only 6 (6.6%) of the patients presented with epilepsy. Patients with epilepsy had a mean age of onset of symptoms lower than that of patients without epilepsy (23.5 ± 15.5 years vs 35.4 ± 8.7 years, p = 0.021, respectively). All cases of intention tremor were in women from one family. This family also had the lowest mean age of onset of symptoms, and a higher percentage of SCA10 cases in women. There was a positive correlation between duration of disease and severity of ataxia (rho = 0.272, p = 0.016), as quantified by SARA. We did not find a statistically significant correlation between age of onset of symptoms and expansion size (r = - 0.163, p = 0.185). The most common clinical presentation of SCA10 was pure cerebellar ataxia. Our data suggest that patients with epilepsy may have a lower age of onset of symptoms than those who do not have epilepsy. These findings and the description of a family with intention tremor in women with earlier onset of symptoms draw further attention to the phenotypic variability of SCA10.

Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families.

OBJECTIVES: To describe and correlate the genotype and phenotype of patients diagnosed with SCAs in southern of Brazil. PATIENTS AND METHODS: Data were collected from the records of our ataxia outpatient clinic. We included 460 patients from 213 families, who were divided into four groups: SCA3, SCA10, Other SCAs and Undetermined. RESULTS: The most frequent type was SCA3 (45.7%), followed by SCA10 (18.3%), SCA2 (6.5%), SCA1 (4.3%), SCA7 (1.8%), and SCA6 (0.65%). The Undetermined group represented 22.8% of all patients. We observed a high frequency of SCA10 when compared to data from other studies, which can be explained by a founder effect in our region. Statistically significant differences were found for several symptoms when comparing SCA groups, especially lid retraction (p < 0.001), ophthalmoplegia (p < 0.001), visual loss (p < 0.001) and slow saccades (p < 0.001) which may help clinically differentiate SCAs and allow neurologists to request the right confirmatory genetic test and define prognosis. Also, the prevalence of epilepsy in SCA10 patients was lower than usual (4.8%), suggesting a genetic variation of the disease. CONCLUSION: Although SCA3 remains the most common, we observed a high frequency of SCA10 in our region. In addition, some symptoms and signs might help differentiate the SCAs.

Intra-arterial Thrombectomy with Stent Retriever for Acute Ischemic Stroke ­ a Retrospective, Single-centered Study from Brazil

Objective To report our initial experience with intra-arterial thrombectomy (IAT) with stent retriever for acute ischemic stroke. Methods We conducted a retrospective review of patients with acute ischemic stroke who underwent IAT from September 2010 to August 2016. Results Forty-one patients were included; mean age was 57 years (range: 29­85), and 54% were women. There were 32 anterior circulation occlusions, and 11 posterior circulation occlusions. The mean value of the National Institutes of Health Stroke Scale (NIHSS) upon admission (available in 9/41 patients) was 14 (range: 6­20). Nineteen patients had favorable outcomes (modified Rankin Scale [mRS]: 0­2 at 6 months), and 22 had unfavorable outcomes (mRS: 3­6 at 6 months). The mortality rate was 37% (15/41). Favorable outcomes were associated with revascularization within the first 360 minutes of the onset of symptoms (p » 0.000001), and satisfactory revascularization (thrombolysis in cerebral infarction [TICI] scale: 2b or 3) (p » 0.0018). Conclusion It is of paramount importance to educate stroke teams on the benefits of IAT for acute ischemic stroke and the population on identifying stroke and seeking immediate care following symptom onset.

Objetivo Relatar nossa experiência inicial com trombectomia intra-arterial (TIA) com uso de stent retriever em acidente vascular encefálico isquêmico (Avei) agudo. Métodos Análise retrospectiva de pacientes com Avei submetidos a TIA de setembro de 2010 a agosto de 2016. Resultados Foram incluídos 41 pacientes; a idade média foi 57 anos (intervalo: 29­85), e 54% dos pacientes eram mulheres. Trombos ocluindo vasos da circulação anterior foram encontrados em 32 casos, e 11 na circulação posterior. A média do valor da Escala de Acidente Vascular Encefálico do National Institutes of Health (NIH) na admissão (disponível para 9 dos 41 pacientes) foi 14 (intervalo: 6­20). Um total de 19 pacientes teve resultados favoráveis (Escala de Rankin modificada [ERm]: 0­2 em 6 meses), e 22 tiveram resultados não favoráveis (ERm: 3­6 em 6 meses). A mortalidade foi de 37% (15/41). Resultados favoráveis foram associados com revascularização dentro dos primeiros 360 minutos de instalação dos sintomas (p » 0.000001) e revascularização satisfatória (escala de trombólise em infarto cerebral [TEIC]: 2b ou 3) (p » 0.0018). Conclusão É de suma importância educar as equipes de acidente vascular encefálico sobre os benefícios da TIA para Avei agudo, e a população, na identificação do Avei, para que seja buscado atendimento imediato após o início dos sintomas.

Anterior temporal lobectomy versus selective amygdalohippocampectomy in patients with mesial temporal lobe epilepsy / Lobectomia temporal anterior versus amigdalohipocampectomia seletiva para epilepsia de lobo temporal mesial

ABSTRACT Objective To contribute our experience with surgical treatment of patients with mesial temporal lobe epilepsy (mTLE) undergoing anterior temporal lobectomy (ATL) or selective amygdalohippocampectomy (SelAH). Method This is a retrospective observational study. The sample included patients with medically refractory mTLE due to unilateral mesial temporal sclerosis who underwent either ATL or SelAH, at Hospital de Clinicas – UFPR, from 2005 to 2012. We report seizure outcomes, using Engel classification, cognitive outcomes, using measurements of verbal and visuospatial memories, as well as operative complications. Result Sixty-seven patients (33 ATL, 34 SelAH) were studied; median follow-up was 64 months. There was no statistically significant difference in seizure or neuropsychological outcomes, although verbal memory was more negatively affected in ATL operations on patients’ dominant hemispheres. Higher number of major complications was observed in the ATL group (p = 0.004). Conclusion Seizure and neuropsychological outcomes did not differ. ATL appeared to be associated with higher risk of complications.

RESUMO Objetivo Contribuir com nossa experiência para o tratamento cirúrgico de pacientes com epilepsia do lobo temporal mesial submetidos a lobectomia temporal anterior (LTA) ou amigdalohipocampectomia seletiva (AHS). Método Estudo retrospectivo observacional. Foram incluídos pacientes com epilepsia refratária devido a esclerose mesial temporal unilateral, submetidos a LTA ou AHS no Hospital de Clínicas – UFPR, entre 2005-2012. Foram comparados os resultados cognitivos (análises de memórias verbal e visuoespacial), controle de crises (Engel) e complicações cirúrgicas. Resultados Sessenta e sete pacientes (33 LTA, 34 AHS) foram estudados; o período de acompanhamento médio foi de 64 meses. Não houve diferença no controle das crises ou resultado neuropsicológico, mas a memória verbal foi mais negativamente afetada nos pacientes submetidos à LTA no hemisfério dominante. Maior número de complicações graves ocorreu no grupo de LTA (p = 0.004). Conclusão Controle de crises e resultados neuropsicológicos não diferiram. LTA pareceu estar associada a um maior risco cirúrgico.

Anterior temporal lobectomy versus selective amygdalohippocampectomy in patients with mesial temporal lobe epilepsy.

OBJECTIVE: To contribute our experience with surgical treatment of patients with mesial temporal lobe epilepsy (mTLE) undergoing anterior temporal lobectomy (ATL) or selective amygdalohippocampectomy (SelAH). METHOD: This is a retrospective observational study. The sample included patients with medically refractory mTLE due to unilateral mesial temporal sclerosis who underwent either ATL or SelAH, at Hospital de Clinicas - UFPR, from 2005 to 2012. We report seizure outcomes, using Engel classification, cognitive outcomes, using measurements of verbal and visuospatial memories, as well as operative complications. RESULT: Sixty-seven patients (33 ATL, 34 SelAH) were studied; median follow-up was 64 months. There was no statistically significant difference in seizure or neuropsychological outcomes, although verbal memory was more negatively affected in ATL operations on patients' dominant hemispheres. Higher number of major complications was observed in the ATL group (p = 0.004). CONCLUSION: Seizure and neuropsychological outcomes did not differ. ATL appeared to be associated with higher risk of complications.

Hemophagocytic Lymphohistiocytosis After Initiation of Chemotherapy for Bilateral Adrenal Neuroblastoma.

Hemophagocytic lymphohistiocytosis (HLH) is a rare and aggressive syndrome characterized by overactivation of the immune system. Although secondary HLH has been frequently associated with malignancies, this entity is rarely triggered by solid tumors, such as neuroblastomas. Herein, we describe a 14-month-old girl with a late diagnosis of bilateral adrenal neuroblastoma who developed HLH 6 days after the initiation of chemotherapy. On the basis of the large tumoral mass and the time of onset of her symptoms suggestive of HLH, we hypothesize that tumor cell destruction induced by chemotherapy drugs was the trigger to the development of hematophagocytic lymphohistiocytosis syndrome.

OnabotulinumtoxinA for trigeminal neuralgia: a review of the available data / Toxina Onabotulínica-A para neuralgia do trigêmeo: uma revisão dos dados disponíveis

Trigeminal neuralgia (TN) patients may develop side effects from centrally acting drugs, have contraindications for neurosurgical procedures, or experience relapse during conventional therapies. OnabotulinumtoxinA (BoNT/A) has been reported to be effective for TN, although this finding has been challenged. An overview of the available evidence based on a narrative/qualitative analysis of the literature is presented. About 90% of patients who receive BoNT/A show an improvement, a higher figure than that reported for the placebo effect of BoNT/A for other headaches. Tolerability of BoNT/A is good, and its few side-effects are transient. The articles reviewed were mainly case reports, case series and open-label trials; however, randomized controlled trials have endorsed the efficacy of BoNT/A for TN. This evidence, together with a better understanding of the analgesic mechanisms of BoNT/A and its proven efficacy in treating other pain syndromes, supports the use of this toxin as a therapeutic option for TN.

Pacientes com neuralgia do trigêmeo (NT) podem apresentar efeitos colaterais decorrentes do uso de drogas psicoativas, contra-indicações a procedimentos neurocirúrgicos ou perda da eficácia destas terapias. A neurotoxina botulínica do tipo A (NTB/A) tem demonstrado ser eficaz no alívio da NT, ainda que este achado tenha sido contestado. Uma análise narrativa/qualitativa da literatura disponível é apresentada. Cerca de 90% dos pacientes que receberam NTB/A melhoram, um número superior aos atribuíveis ao efeito placebo da NTB/A em outras cefaléias. Além disso, a NTB/A mostrou uma baixa incidência de efeitos colaterais, transitórios. Embora a maioria dos artigos consistam de relatos de caso, séries de casos e ensaios abertos, ensaios clínicos randomizados controlados recentes reafirmam a eficácia da NTB/A na NT. Estas evidências, associadas ao melhor entendimento dos mecanismos analgésicos da NTB/A e a sua eficácia em outras síndromes dolorosas, ratificam a NTB/A como uma opção terapêutica para a NT.

OnabotulinumtoxinA for trigeminal neuralgia: a review of the available data.

Trigeminal neuralgia (TN) patients may develop side effects from centrally acting drugs, have contraindications for neurosurgical procedures, or experience relapse during conventional therapies. OnabotulinumtoxinA (BoNT/A) has been reported to be effective for TN, although this finding has been challenged. An overview of the available evidence based on a narrative/qualitative analysis of the literature is presented. About 90% of patients who receive BoNT/A show an improvement, a higher figure than that reported for the placebo effect of BoNT/A for other headaches. Tolerability of BoNT/A is good, and its few side-effects are transient. The articles reviewed were mainly case reports, case series and open-label trials; however, randomized controlled trials have endorsed the efficacy of BoNT/A for TN. This evidence, together with a better understanding of the analgesic mechanisms of BoNT/A and its proven efficacy in treating other pain syndromes, supports the use of this toxin as a therapeutic option for TN.

Diffuse idiopathic skeletal hyperostosis: A review.

BACKGROUND: Diffuse idiopathic skeletal hyperostosis (DISH) is a systemic noninflammatory disease characterized by ossification of the entheses. METHODS: This paper reviews the etiopathogenesis, epidemiology, clinical features, differential diagnosis, and treatment of DISH, based on current available literature. RESULTS: Exact prevalence and incidence of DISH remains undetermined. Many external and genetic factors have been reported as being contributors to the pathogenesis of DISH. Current theories focus on the pathologic calcification of the anterior longitudinal ligament of the spine as the main physiopathological mechanism of disease. Clinical features are variable from monoarticular sinovitis to airway obstruction, and can be associated to systemic conditions. Comorbidities include obesity, hypertension, diabetes mellitus, hyperinsulinemia, dyslipidemia, and hyperuricemia according to a number of reports. CONCLUSIONS: DISH is a disease which involves the calcification of the anterior longitudinal ligament of the spine and can be associated with numerous clinical presentations and comorbidities.