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Cerebellar symptoms remain orphan of treatment options despite being prevalent and incapacitating. Investigate whether dentate nucleus deep brain stimulation (DN DBS) is safe and leads to improvements in cerebellar symptoms when compared to sham stimulation. This randomized double-blind crossover pilot trial enrolled five patients with spinocerebellar ataxia type 3 or post-lesion ataxia. Active or sham phases were randomly performed three months apart. The primary outcome was ataxia improvement as measured by the Scale for the Assessment and Rating of Ataxia (SARA) after the active compared to the sham period. Secondary outcome measures included safety and tolerability, the Fahn-Tolosa-Marin Tremor Rating Scale (FTMRS), quality of life measurements, and patients' global impression of change. The effects on ataxia were numerically better in four out of five patients after active versus sham stimulation. The composite SARA score did not change after comparing active to sham stimulation (8.6 ± 3.6 versus 10.1 ± 4.1; p = 0.223). The FTMRS showed significant improvement after active stimulation versus sham (18.0 ± 17.2 versus 22.2 ± 19.5; p = 0.039) as did patients' global impression of change (p = 0.038). The quality of life was not modified by stimulation (p = 0.337). DN DBS was well tolerated without serious adverse events. One patient had the electrode repositioned. DN DBS is a safe and well tolerated procedure that is effective in alleviating cerebellar tremor. In this small cohort of ataxic patients, DN DBS did not achieve statistical significance for ataxia improvement.

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INTRODUCTION: Cerebellar ataxia remains a neurological symptom orphan of treatment interventions, despite being prevalent and incapacitating. We aimed to study, in a double-blind design, whether cerebellar modulation could improve ataxia. METHODS: We included patients with diagnosis of spinocerebellar ataxia type 3, multiple systems atrophy cerebellar type, or post-lesion ataxia. Patients received five sessions each of sham and active cerebellar 1 Hz deep repetitive transcranial magnetic stimulation in randomized order. Our primary outcome was the decrease in the Scale for the Assessment and Rating of Ataxia when comparing phases (active x sham). Secondary outcomes measures included the International Cooperative Ataxia Rating Scale, and other motor, cognitive, and quality of life scales. This study was registered at clinicaltrials.gov (protocol NCT03213106). RESULTS: Twenty-four patients aged 29-74 years were included in our trial. After active stimulation, the Scale for the Assessment and Rating of Ataxia score was significantly lower than the score after sham stimulation [median (interquartile range) of 10.2 (6.2, 16.2) versus 12.8 (9.6, 17.8); p = 0.002]. The International Cooperative Ataxia Rating Scale score also improved after active stimulation versus sham [median (interquartile range) of 29.0 (21.0, 43.5) versus 32.8 (22.0, 47.0); p = 0.005]. Other secondary outcomes were not significantly modified by stimulation. No patient presented severe side effects, and nine presented mild and self-limited symptoms. CONCLUSIONS: Our protocol was safe and well-tolerated. These findings suggest that cerebellar modulation may improve ataxic symptom and provide reassurance about safety for clinical practice.

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Pacientes atáxicos apresentam uma disfunção de coordenação sobre a sequência de ativação muscular e disfunção na performance rítmica e movimentos alternados. O objetivo desse estudo foi investigar a influência das atividades rítmicas no desempenho motor e funcional de um paciente atáxico. M.A., sexo feminino, 57 anos participou de 18 sessões de atividades rítmicas, 3 vezes por semana por 40 minutos. A ataxia foi avaliada pela Escala de Avaliação e Classificação de Ataxia (SARA) e para avaliação rítmica foi utilizado o Teste do Padrão Rítmico (TPR), que avalia a execução de algumas habilidades motoras na presença de um ritmo sonoro. A terapia consistiu em atividades de coordenação motora associadas com atividades rítmicas. As atividades eram realizadas com auxilio de um metrônomo utilizando música de andamento lento e, em seguida, andamento rápido. As avaliações foram aplicadas antes e após a intervenção. Antes a após a intervenção a paciente obteve 12 pontos na SARA (0 - ausência de ataxia e 40 - ataxia grave), o que mostra uma manutenção dos sintomas relacionados à ataxia. Antes da intervenção, a paciente foi incapaz de realizar qualquer atividade do TPR de forma adequada, obtendo 0pontos. Após a intervenção, oito das 10 atividades foram realizadas corretamente, pontuando 8. Melhoras nas habilidades motoras após a intervenção puderam ser adquiridas indiretamente, como o equilíbrio estático e dinâmico. Esta habilidade não foi diretamente treinada na terapia, porém a realização com sucesso das atividades salto skip, elevação alternada dos joelhos e deslocamento lateral do TPR, ao final da intervenção, demonstra uma melhora no quesito equilíbrio. A intervenção com as atividades rítmicas melhorou a capacidade de executar atividades relacionadas ao TPR enquanto trouxe uma abordagem lúdica e prazerosa ao tratamento embora não tenha exercido influência sobre as características motoras da ataxia avaliadas pela SARA.

Ataxic patients present a coordination dysfunction on the sequence of muscle activation and dysfunction on performing rhythmic and alternating movements. The objective of this study was to investigate the influence of rhythmic activities on motor and functional performance in an ataxic patient. M.A., female, 57 years old underwent 18 sessions of rhythmic activities, 3 times a week for 40 minutes. Ataxia features were assessed by the Scale for Assessment and Rating of Ataxia (SARA) and rhythmic performance was assessed using the Test of Rhythmic Pattern (TPR), which evaluates the performance of some motor skills in the presence of a rhythm. Rhythmic activities consisted of motor coordination activities associated with rhythmic features. Activities were performed following a metronome, using slow-paced music and then fast-paced music. SARA and TPR have been assessed before and after the intervention. Before and after intervention the patient obtained 12 points at SARA (0-absence of ataxia and 40-severe ataxia), which shows a maintenance of the symptoms related to ataxia. Before intervention, the patient was unable to perform any activity of TPR in the appropriate way, scoring 0 points. After intervention, 8 of the 10 activities have been performed correctly, scoring 8. Improvement on motor abilities post intervention were indirectly acquired, as static and dynamic balance. Balance was not directly trained during therapy sessions, although the correct execution of skip jump (jumping with alternating legs), lifting alternating knees and lateral displacement abilities of TPR post intervention show this improvement on balance... It would be possible that a greater number of sessions associated to a gradually increase on the degree of difficulty of the rhythmic activities can bring benefits to motor performance of an ataxic patient.

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INTRODUCTION: Postvaricella cerebellar ataxia (PVCA) and meningoencephalitis are the most common acute neurological complications of chickenpox. The objective of this study was to describe the clinical presentation, management, and outcome of children hospitalized with PVCA in the only pediatric hospital of this developing country, where routine varicella immunization is not yet available. METHODS: We performed a retrospective chart review of children aged 1-12 years old admitted to the National Children's Hospital of Costa Rica from January 1997 to June 2004 with a diagnosis of PVCA. RESULTS: Among the 441 immunocompetent patients admitted for varicella zoster virus-associated complications during this period, 37 (8.4%) had PVCA. Twenty-four of the 37 (64.9%) patients were boys. The mean (range) age was 5 (1-10) years. The median (range) interval from rash onset to admission was 2 (1-3) days. Cerebrospinal fluid analysis was available in 22 (59.5%) patients and was normal in all. Head computed tomography showed cerebral edema in six out of 18 patients (33.3%). Intravenous acyclovir was administered to 23 patients but no significant differences in clinical manifestations or outcomes were observed in treated versus untreated patients. The mean (range) length of ataxia was 4 (1-10) days, and seven (19%) patients were still ataxic on discharge. The mean (range) length of hospital stay was 4.4 (2-11) days. Minor sequelae were documented in 13 out of 24 (54.2%) patients during follow-up visits and telephone contacts. CONCLUSIONS: PVCA is usually associated with a favorable prognosis; however, neurological sequelae can occur. The real utility of acyclovir treatment and brain imaging studies in these children remains controversial.

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The authors describe the clinical, laboratorial, neuroradiological and electrophysiological findings of two cases of late onset autosomal dominant cerebellar ataxia. The first case, a 66-year-old woman, had other clinical features associated to the cerebellar syndrome (upper eyelids retraction, upward gaze paralusis, peripheral neuropathy, amiotrophy), slowed sensory nerve conduction velocities and aonormal BAEP. The second case, a 30-year-old man, had a pure cerebellar syndrome, with normal electrophysiological findings. In both cases, CT-scans disclosed hemispheral cerebellar atrophy, and a marked brainstem atrophy in the first case. Drug treatment with choline chloride and TRH were tried in both cases, and were unsuccessful. Several aspects related to this group ou neurogenetic diseases are discussed

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