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Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families

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Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and epilepsy. The aims of this study were to characterize the phenotypic expression of SCA10 and to examine its genotype-phenotype relationships. Ninety-one Brazilian patients with SCA10 from 16 families were selected. Clinical and epidemiological data were assessed by a standardized protocol, and severity of disease was measured by the Scale for the Assessment and Rating of Ataxia (SARA). The mean age of onset of symptoms was 34.8 ± 9.4 years. Sixty-two (68.2%) patients presented exclusively with pure cerebellar ataxia. Only 6 (6.6%) of the patients presented with epilepsy. Patients with epilepsy had a mean age of onset of symptoms lower than that of patients without epilepsy (23.5 ± 15.5 years vs 35.4 ± 8.7 years, p = 0.021, respectively). All cases of intention tremor were in women from one family. This family also had the lowest mean age of onset of symptoms, and a higher percentage of SCA10 cases in women. There was a positive correlation between duration of disease and severity of ataxia (rho = 0.272, p = 0.016), as quantified by SARA. We did not find a statistically significant correlation between age of onset of symptoms and expansion size (r = − 0.163, p = 0.185). The most common clinical presentation of SCA10 was pure cerebellar ataxia. Our data suggest that patients with epilepsy may have a lower age of onset of symptoms than those who do not have epilepsy. These findings and the description of a family with intention tremor in women with earlier onset of symptoms draw further attention to the phenotypic variability of SCA10.

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Authors and Affiliations

  1. Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR, 80060-150, Brazil

    Bernardo Machado Dias Domingues, Alex Tiburtino Meira & Hélio Afonso Ghizoni Teive

  2. Department of Neurology, Baylor College of Medicine, Houston, TX, USA

    Fábio A. Nascimento

  3. Paraná Association for Parkinsonism, Curitiba, Brazil

    Adriana Moro

  4. Genetika - Centro de Aconselhamento e Laboratório de Genética, Curitiba, Brazil

    Salmo Raskin

  5. Neuroscience Research Program, Methodist Hospital Research Institute, Houston, TX, USA

    Tetsuo Ashizawa

Authors
  1. Bernardo Machado Dias Domingues
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  2. Fábio A. Nascimento
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  3. Alex Tiburtino Meira
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  4. Adriana Moro
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  6. Tetsuo Ashizawa
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  7. Hélio Afonso Ghizoni Teive
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Correspondence to Hélio Afonso Ghizoni Teive.

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Domingues, B.M.D., Nascimento, F.A., Meira, A.T. et al. Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families. Cerebellum 18, 849–854 (2019). https://doi.org/10.1007/s12311-019-01064-y

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