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11.
Hélio A.G. Teive Renato P. Munhoz Salmo Raskin Walter O. Arruda Luciano de Paola Lineu C. Werneck Tetsuo Ashizawa 《Movement disorders》2010,25(16):2875-2878
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases. © 2010 Movement Disorder Society 相似文献
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Camargo CH Teive HA Becker N Baran MH Scola RH Werneck LC 《Arquivos de neuro-psiquiatria》2008,66(1):15-21
We studied patients with cervical dystonia (CD) to determine clinical features and response to botulinum toxin A (BoNT/A). Patients were submitted to clinical, laboratory and neuroimaging evaluation. BoNT/A was injected locally in 81 patients using electromyographic guidance. Four patients who had had previous treatment were considered to be in remission. The average ages at onset of focal dystonia and segmental dystonia were greater than for generalized dystonia (p<0.0003). The severity of the abnormal head-neck movements were more severe among the patients with generalized dystonia (p<0.001). Pain in the cervical area was noted in 59 patients. It was not possible to determine the etiology of the disease in 62.3% of patients. Tardive dystonia was the most common secondary etiology. A major improvement in the motor symptoms of CD and pain was observed in patients following treatment with BoNT/A. The tardive dystonia subgroup did not respond to the treatment. Dysphagia was observed in 2.35% of the patients. 相似文献
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Teive H Carsten AL Iwamoto FM Almeida SM Munhoz RP Werneck LC Medeiros CR Pasquini R 《Journal of postgraduate medicine》2008,54(3):203-205
Background: Central nervous system fungal infections (FI) are important complications and a cause of mortality in patients who receive hematopoietic stem cell transplantation (HSCT). Aims: To study the clinical aspects of fungal encephalitis (FE). Settings and Design: The study was carried out at the HSCT Center of the Hospital de Clnunicas, Federal University of Paranalpha, Curitiba, Brazil. Materials and Methods: Clinical records and autopsy reports from patients submitted to HSCT with a diagnosis of FE. Results: Twelve patients were diagnosed with FE presenting with lowered level of consciousness, hemiparesis and seizures. We were able to identify two subgroups regarding susceptibility to FE: (1) patients with early onset FI and severe leucopoenia, and (2) patients with later onset FI with graft-versus-host disease using immunosuppressive drugs. Eleven of the patients died directly due to the neurological complication, all had post-mortem confirmation of the diagnosis of FI. Conclusions: These clinical, paraclinical and temporal patterns may provide the opportunity for earlier diagnosis and interventions. 相似文献
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Jaw-opening oromandibular dystonia secondary to Wilson's disease treated with botulinum toxin type A
Teive HA Klüppel LE Munhoz RP Becker N Müller PR Werneck LC 《Arquivos de neuro-psiquiatria》2012,70(6):407-409
We have reported a case series of five patients with jaw-opening oromandibular dystonia secondary to Wilson's disease (WD), in which the patients were treated with botulinum toxin type A (BTX-A). In all cases, dystonia score was partially reduced three weeks after injections. The most common side effect was transient mild dysphagia. This preliminary study showed that jaw-opening oromandibular dystonia in WD may be partially responsive to the use of BTX-A. 相似文献
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Movement disorders (MD) encompass acute and chronic diseases characterized by involuntary movements and/or loss of control or efficiency in voluntary movements. In this review, we covered situations in which the main manifestations are MDs that pose significant risks for acute morbidity and mortality. The authors examine literature data on the most relevant MD emergencies, including those related to Parkinson's disease, acute drug reactions (acute dystonia, neuroleptic malignant syndrome, serotonergic syndrome and malignant hyperthermia), acute exacerbation of chronic MD (status dystonicus), hemiballism and stiff-person syndrome, highlighting clinical presentation, demographics, diagnosis and management. 相似文献
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Teive HA 《Parkinsonism & related disorders》2012,18(Z1):S140-S142
Classically, essential tremor (ET) was defined by the Movement Disorder Society Consensus Statement on Tremor (1998) as "a bilateral, largely symmetric postural or kinetic tremor involving hands and forearms that is visible and persistent". Additional or isolated tremor of the head may occur but in the absence of abnormal posture. Duration is more than 5 years and the neurological examination is normal, with exception of the cogwheel phenomenon. In the last years ET has evolved into two different meanings. First of all, the classical ET, as a monosymptomatic disorder, and second, a heterogeneous disorder, the Essential Tremors, or a family of diseases. Nowadays, ET can be classified with both motor and non-motor elements. Tremor may occur also in the legs, feet, trunk, jaw, chin, tongue, and voice. Although postural and kinetic tremors are the main features of ET, intentional tremor and tremor at rest may also occur in some patients. Other motor features described in patients with ET are gait ataxia, postural instability and eye-motion abnormalities. Non-motor features include cognitive (memory and executive problems and dementia), psychiatric (anxiety, depression and social phobia), and sensory abnormalities (olfactory deficits, hearing loss). 相似文献
18.
Carlos Henrique Ferreira Camargo Lígia Cattai Hélio Afonso Ghizoni Teive 《Toxins》2015,7(6):2321-2335
Dystonia is a neurological disorder characterized by intermittent or sustained muscle contractions that cause abnormal, usually repetitive, movements and postures. Dystonic movements can be tremulous and twisting and often follow a pattern. They are frequently associated with overflow muscle activation and may be triggered or worsened by voluntary action. Most voluntary muscles can be affected and, in the case of the neck muscles, the condition is referred to as cervical dystonia (CD), the most common form of dystonia. The high incidence of pain distinguishes CD from other focal dystonias and contributes significantly to patient disability and low quality of life. Different degrees of pain in the cervical region are reported by more than 60% of patients, and pain intensity is directly related to disease severity. Botulinum toxin (BoNT) is currently considered the treatment of choice for CD and can lead to an improvement in pain and dystonic symptoms in up to 90% of patients. The results for BoNT/A and BoNT/B are similar. The complex relationship between pain and dystonia has resulted in a large number of studies and more comprehensive assessments of dystonic patients. When planning the application of BoNT, pain should be a key factor in the choice of muscles and doses. In conclusion, BoNT is highly effective in controlling pain, and its analgesic effect is sustained for a long time in most CD patients. 相似文献
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