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Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3

Authors

  • Jonas Alex Morales Saute MD,

    1. Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    2. Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    3. Neurology Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil
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  • Andrew Chaves Feitosa da Silva MD,

    1. Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil
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  • Alexandre Pastoris Muller MSc,

    1. Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
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  • Gisele Hansel MSc,

    1. Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
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  • Alexandre Silva de Mello MSc,

    1. Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil
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  • Fábio Maeda PhD,

    1. Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    2. Neuroradiology Service, Hospital Moinhos de Vento, Porto Alegre, Brazil
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  • Leonardo Vedolin MD, PhD,

    1. Neuroradiology Service, Hospital Moinhos de Vento, Porto Alegre, Brazil
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  • Maria Luiza Saraiva-Pereira PhD,

    1. Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    2. Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil
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  • Diogo Onofre Souza MD, PhD,

    1. Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
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  • Javier Arpa MD,

    1. Neurology Service, Hospital Universitario “La Paz” (HULP), Madrid, Spain
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  • Ignacio Torres-Aleman PhD,

    1. Laboratory of Cellular and Molecular Neuroendocrinology, Instituto Cajal, Consejo Superior de Investigaciones Cientificas (CSIC), Madrid, Spain
    2. CIBERNED, Madrid, Spain
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  • Luis Valmor Cruz Portela PhD,

    Corresponding author
    1. Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    • Department of Biochemistry, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos 2600 Anexo, CEP 90.035-003, Porto Alegre, Rio Grande do Sul, Brazil

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  • Laura Bannach Jardim MD, PhD

    1. Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    2. Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil
    3. Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
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  • Potential conflict of interest: Nothing to report.

Abstract

Spinocerebellar ataxias (SCAs) constitute a group of autosomal dominant neurodegenerative disorders with no current treatment. The insulin/insulin-like growth factor 1 (IGF-1) system (IIS) has been shown to play a role in the neurological dysfunction of SCAs and other polyglutamine disorders. We aimed to study the biomarker profile of serum IIS components in SCA3. We performed a case–control study with 46 SCA3 patients and 42 healthy individuals evaluating the peripheral IIS profile (insulin, IGF-1, IGFBP1 and 3) and the correlation with clinical, molecular, and neuroimaging findings. SCA3 patients presented lower insulin and IGFBP3 levels and higher insulin sensitivity (HOMA2), free IGF-I, and IGFBP1 levels when compared with controls. IGFBP-1 levels were directly associated with CAG expanded repeat length; IGF-1 was associated with the volumetries of specific brainstem regions on magnetic resonance imaging (MRI). Insulin levels and sensitivity were related to age at onset of symptoms. Our findings indicate an involvement of IIS components in SCA3 neurobiology and IGFBP-1 as a potential biomarker of the disease. © 2010 Movement Disorder Society

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