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Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2

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Abstract

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant degenerative disease. Pathological studies have demonstrated not only cerebellar and brainstem atrophy, but substantia nigra, motoneurons, basal ganglia, thalamus, and peripheral nerves involvement. These findings may explain non-motor and extra-cerebellar features in SCA2. We accessed the non-motor symptoms and extra-cerebellar signs in SCA2 patients in order to provide a better understanding on pathophysiological mechanisms and natural history of brain degeneration in the disease. Thirty-three SCA2 patients were evaluated and compared with 26 healthy subjects. We investigated the following variables: sleep disorders, cognitive deficit, olfactory impairment, urinary dysfunction, psychiatric symptoms, cramps, pain, movement disorders, and weight loss. SCA2 had a high frequency of REM sleep behavior disorder (48.48 %, N = 16) as well as excessive daytime sleepiness (42.42 %, N = 14). Chorea was present in 15.15 % (N = 5), dystonia in 27.27 % (N = 9), and parkinsonism in 27.27 % (N = 9). Slow saccadic pursuit was present in 87.87 % (N = 29) and ophtalmoparesis in 78.78 % (N = 26) of patients. Regarding sleep disorders, 18.18 % (N = 6) of patients had restless leg syndrome. Dysphagia was present in 39.39 % (N = 13), weight loss 24.24 % (N = 8), and urinary dysfunction 27.27 % (N = 9). Cramps was present in only 6 % of patients (N = 2). This study highlighted the high frequency of non-motor symptoms and extra-cerebellar signs in SCA2. Our findings demonstrate the widespread of nervous system involvement in SCA2 patients and contribute to better understand the natural history of brain degeneration in this genetic condition.

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Acknowledgments

Authors’ Contributions

1. Research project: A. Conception, B. Organization, C. Execution

2. Genetic evaluation: A. Execution

3. Clinical evaluation: A. Conception, B. Execution

4. Manuscript: A. Writing of the first draft, B. Review and Critique

Pedroso JL: 1A, 1B, 1C, 3A, 3B, 4A, 4B

Braga-Neto P: 1A, 1B, 1C, 3A, 3B, 4A, 4B

Bezerra MLE: 1A, 1B, 1C, 3A, 3B

Abrahão A: 1A, 1B, 1C, 3A, 3B

Albuquerque MVC: 1A, 1B, 1C, 3A, 3B

Rezende Filho FM: 3A, 3B, 4B

Souza PVS: 1A, 1B, 1C

Pinto WBVR: 1A, 1B, 1C

Borges Junior FRP: 1A, 1B, 1C, 3A, 3B

Saraiva-Pereira ML: 2A, 4A, 4B

Jardim LB: 2A, 4A, 4B

Barsottini OGP: 1A, 1B, 1C, 3A, 3B, 4A, 4B

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    Authors and Affiliations

    1. Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, SP, Brazil

      José Luiz Pedroso, Pedro Braga-Neto, Marcio Luiz Escorcio-Bezerra, Agessandro Abrahão, Marcus Vinicius Cristino de Albuquerque, Flavio Moura Rezende Filho, Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto & Orlando G. P. Barsottini

    2. Center of Health Sciences, Universidade Estadual do Ceará, CE, Brazil

      Pedro Braga-Neto

    3. Department of Neurophysiology and Department of Neurosurgery, Fundação Beneficente, Hospital de Cirurgia, Aracaju, SE, Brazil

      Franklin Roberto Pereira Borges Jr.

    4. Department of Biochemistry and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil

      Maria Luiza Saraiva-Pereira

    5. Department of Internal Medicine and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil

      Laura Bannach Jardim

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    Correspondence to José Luiz Pedroso.

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    Full consent was obtained from the patients to be enrolled in this study. Our Institutional Ethics Committee approved this study.

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    The authors declare that they have no competing interests.

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    We have nothing to disclose.

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    José Luiz Pedroso and Pedro Braga-Neto contributed equally to this work.

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    Pedroso, J.L., Braga-Neto, P., Escorcio-Bezerra, M.L. et al. Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2. Cerebellum 16, 34–39 (2017). https://doi.org/10.1007/s12311-016-0761-5

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    • DOI: https://doi.org/10.1007/s12311-016-0761-5

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