Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?

Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis. We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker.

Is Ataxia an Underestimated Symptom of Huntington's Disease?

Background: Huntington's disease (HD) is a progressive disorder characterized by motor, cognitive and psychiatric features. Cerebellar ataxia is classically considered as uncommon in HD clinical spectrum. Objective: To determine the prevalence of cerebellar ataxia in patients with HD, both in the early and in the late stages of HD. Methods: Seventy-two individuals considered eligible were assessed by two trained doctors, applying the Scale for Assessment and Rating of Ataxia (SARA) and Brief Ataxia Rating Scale (BARS) for ataxia, the Unified Huntington's Disease Rating Scale (UHDRS) and also, Barthel Index (BI), in order to evaluate functional capacity. Results: Fifty-one patients (70.8%) presented with clinical ataxia at the time of examination (mean time of disease was 9.1 years). Six (8.33%) patients presented with cerebellar ataxia as first symptom. When stratified according to time of disease, a decline in the presence of chorea (p = 0.032) and an increase in cognitive deficit (p = 0.023) were observed in the patients as the disease progressed. The presence of ataxia was associated with longer duration of illness and severity of illness (UHDRS) (p < 0.0001), and shorter Barthel (less functionality) (p = 0.001). Conclusions: Cerebellar involvement may play an important role in natural history of brain degeneration in HD. The presence of cerebellar ataxia in HD is relevant and it may occur even in early stages, and should be included as part of the motor features of the disease.

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese.

OBJECTIVE: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. METHODS: The steps of this study were forward translation, translation synthesis, backward translation, expert committee meeting, preliminary pilot testing and final assessment. Thirty patients were enrolled in the preliminary pilot testing and 61 patients were evaluated for construct validity, internal consistency, intra- and inter-rater reliability and external consistency. RESULTS: This study showed good validity of the construct and high internal consistency for the full scale, except for the oculomotor domain (Cronbach's alpha = 0.316, intraclass correlation coefficients intra- = 82.4% and inter- = 79.2%). A high correlation with the Scale for the Assessment and Rating of Ataxia was observed. We found good intra-rater agreement and relative inter-rater disagreement, except in the posture and gait domain. CONCLUSION: The present ICARS version is adapted for the Brazilian culture and can be used to assess our ataxic patients.

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese / Tradução para o português e validação da Escala Cooperativa Internacional para Avaliação das Ataxias (ICARS)

ABSTRACT Introduction: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. Methods: The steps of this study were forward translation, translation synthesis, backward translation, expert committee meeting, preliminary pilot testing and final assessment. Thirty patients were enrolled in the preliminary pilot testing and 61 patients were evaluated for construct validity, internal consistency, intra- and inter-rater reliability and external consistency. Results: This study showed good validity of the construct and high internal consistency for the full scale, except for the oculomotor domain (Cronbach's alpha = 0.316, intraclass correlation coefficients intra- = 82.4% and inter- = 79.2%). A high correlation with the Scale for the Assessment and Rating of Ataxia was observed. We found good intra-rater agreement and relative inter-rater disagreement, except in the posture and gait domain. Conclusion: The present ICARS version is adapted for the Brazilian culture and can be used to assess our ataxic patients.

RESUMO Introdução: A avaliação clínica de pacientes atáxicos requer instrumentos confiáveis. Nosso objetivo foi traduzir, adaptar culturalmente e validar a International Cooperative Ataxia Rating Scale (ICARS) para a língua portuguesa do Brasil. Métodos: As etapas foram tradução, síntese das traduções, retrotradução, comitê de especialistas, pré-teste e avaliação final. O pré-teste foi realizado com 30 pacientes. Outros 61 pacientes foram avaliados para validade do constructo, consistência interna, confiabilidade intra e interexaminadores e consistência externa. Resultados: Este estudo mostrou boa validade do constructo e alta consistência interna para o total da escala, exceto para o domínio Oculomotor (alfa de Cronbach = 0.316, CCIintra = 82.4% e CCIinter = 79.2%). Alta correlação com a Scale for the Assessment and Rating of Ataxia foi observada. Nós encontramos boa concordância intraexaminador e relativa discordância interexaminadores, com exceção dos domínios postura e marcha. Conclusão: Esta versão da ICARS está adaptada para a cultura brasileira e pode ser usada em pacientes com ataxia.

Síndrome pós-poliomielite (SPP): orientações para profissionais de saúde

As doenças neuromusculares representam um grupo de afecções que comprometem a unidade motora, ou seja, o corpo celular do neurônio motor inferior, o seu prolongamento, a junção neuromuscular ou o tecido muscular. Dentre as doenças neuromusculares, encontram-se as lesões neuronais motoras, que são condições nas quais há alterações morfológicas ou bioquímicas que ocorrem no corpo do neurônio. A lesão neuronal motora caracteriza-se por envolvimento do corpo celular do neurônio motor inferior (NMI). As principais doenças são: poliomielite anterior aguda (Pólio), atrofia muscular espinhal progressiva (AMEP) e doença do neurônio motor (DNM). A síndrome pós-poliomielite(SPP)é um transtorno neurológico, denro do capítulo dos efeitos tardios da poliomielite, caracterizados por nova fraqueza muscular e/ou fadiga muscular anormal em indivíduos que tiveram poliomielite aguda, muitos anos antes. A SPP encontra-se na categoria das doenças do nerônio motor (neuronopatia motora) em virtude dos quadros clínico e histológico estarem intimamente relacionados com disfunção dos neurônios motores inferiores.

A síndrome pós-poliomielite / The post-polio syndrome

Contextualização da síndrome Pós-poliomielite nas doenças neuromusculares, sua conceituação, classificação e os antecedentes. Aborda a síndrome Pós-poliomielite no Brasil trazendo aspectos sobre epidemiologia, fatores de risco, fisiopatologia, mecanismos patogênicos, critérios diagnósticos e a história natural da poliomielite na clínica da síndrome Pós-poliomielite. (AU)