Abstract Introduction Parkinson disease (PD) is a progressive degeneration characterized by motor disorders, such as tremor, bradykinesia, stiffness and postural instability. Objective To evaluate the independence, confidence and balance in the development of daily activities in patients with PD before and after rehabilitation. Methods A descriptive, retrospective cross-sectional study was carried out with 16 patients (mean 57.6 ± 18.7 years), submitted to anamnesis, otolaryngological evaluation and vestibular assessment. The Vestibular Disorders Activities of Daily Living (VADL) and the Activities-Specific Balance Confidence (ABC) scales were applied before and after rehabilitation with virtual reality. Results a) The instrumental subscale of the questionnaire showed statistically significant result (p = 0.022; 95 % CI 1.21; 2.21) between the first and second assessments; b) The correlation between the questionnaires showed statistically significant result in the ambulation subscale (p = 0.011; 95 % CI -0.85; -0.17) first and (p = 0.002, 95 % CI -0.88; -0.31) second assessments, and the functional subscale was only verified in the second assessment (p = 0.011, 95 % CI -0.85; -0.17); and c) The patients presented clinical improvement in the final assessment after rehabilitation with significant result for the tightrope walk (p = 0.034, 95 % CI -12.5; -0.3) and ski slalom games (p = 0.005, 95 % CI -34.8; -6.6). Conclusions Our results showed that the VADL and ABC questionnaires, applied before and after rehabilitation, were important tools to measure the independence, confidence and balance while developing daily activities. The VADL and ABC questionnaires may effectively contribute to quantify the effect of the applied therapeutics and, consequently, its impact on the quality of life of patients with PD.

Os autores apresentam uma revisão histórica sobre a contribuição do Professor Abraham Akerman para a Neurologia brasileira, incluindo o famoso sinal “Mão instável atáxica de Alajouanine-Akerman”.

The authors present a historical review of the contribution of Professor Abraham Akerman to Brazilian neurology, including the famous sign known as “the Alajouanine-Akerman unstable ataxic hand”.

Os autores apresentam uma breve revisão histórica sobre as mais importantes contribuições do Professor Elio Lugaresi, da Universidade de Bolonha, Itália, para a Neurologia e para os distúrbios do sono.

The authors present a brief historical review of the most important contributions by Professor Elio Lugaresi, of the University of Bologna, Italy, to neurology and sleep disorders.

OBJETIVO: A doença de Wilson (DW) é um erro inato do metabolismo causado por abnormalidades no gene ATP7B, que codifica uma proteína transportadora de cobre. Neste estudo, avaliamos as mutações do gene ATP7B em um grupo de pacientes do sul do Brasil. MÉTODOS: Foram estudados 36 pacientes com DW e classificados do ponto de vista clínico e epidemiológico. Em 23 pacientes, o gene ATP7B foi analisado. RESULTADOS: A substituição c.3207C>A no éxon 14 foi a mutação mais comum seguida pela mutação c.3402delC no éxon 15 . A mutação c.2018-2030del13 no éxon 7 e a c.4093InsT no éxon 20 são relatadas pela primeira vez na literatura. CONCLUSÃO: A mutação do gene ATP7B, com a substituição c.3207C>A no éxon 14 foi a mais frequente. Esta mutação é a mais comumente encontrada em pacientes europeus.

OBJECTIVE: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.

Resumo Fundamento: As ataxias espinocerebelares (AECs) compreendem um grupo heterogêneo de enfermidades neurodegenerativas, que se caracterizam pela presença de ataxia cerebelar progressiva, associada de forma avariada com oftalmoplegia, sinais piramidais, extrapiramidais, retinopatia pigmentar, neuropatia periférica, disfunção cognitiva e demência. Objetivo: Revisar a presença de disfunção cognitiva entre os principais tipos de AECs publicados na literatura mundial. Métodos: A revisão foi realizada através da pesquisa pelo sistema do PUBMED e do OMIM. Resultados: Disfunção cognitiva ocorre em uma parcela considerável de AECs, particularmente na AEC 3, que é a forma de AEC mais encontrada em todo o mundo. Demência também tem sido descrita em alguns tipos de AECs como a AEC 2, a AEC 17 e a DRPLA. Retardo mental é característica clínica peculiar da AEC tipo 13. Conclusões: O papel do cerebelo nas funções cognitivas vem sendo enfatizado cada vez mais e diferentes tipos de AECs, apresentam graus variados de disfunção cognitiva, demência e também retardo mental.

Abstract Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of complex neurodegenerative diseases, characterized by the presence of progressive cerebellar ataxia, associated or otherwise with ophthalmoplegia, pyramidal signs, extrapyramidal features, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. Objective: To verify the presence of cognitive dysfunction among the main types of SCA described in the literature. Methods: the review was conducted using the search system of the PUBMED and OMIM databases. Results: Cognitive dysfunction occurs in a considerable proportion of SCA, particularly in SCA 3, which is the most frequent form of SCA worldwide. Dementia has been described in several other types of SCA such as SCA 2, SCA 17 and DRPLA. Mental retardation is a specific clinical feature of SCA 13. Conclusions: The role of the cerebellum in cognitive functions has been observed in different types of SCAs which can manifest varying degrees of cognitive dysfunction, dementia and mental retardation.