Abstract
Spinocerebellar ataxia type 3, also known as Machado–Joseph disease (SCA3/MJD), is an autosomal dominant neurodegenerative disorder with no current treatment. We aimed to evaluate the body mass index (BMI) of patients with SCA3/MJD and to assess the correlations with clinical, molecular, biochemical, and neuroimaging findings. A case–control study with 46 SCA3/MJD patients and 42 healthy, non-related control individuals with similar age and sex was performed. Clinical evaluation was done with the ataxia scales SARA and NESSCA. Serum insulin, insulin-like growth factor 1 (IGF-1) and magnetic resonance imaging normalized volumetries of cerebellum and brain stem were also assessed. BMI was lower in SCA3/MJD patients when compared to controls (p = 0.01). BMI was associated with NESSCA, expanded CAG repeat number (CAG)n, age of onset, age, disease duration, and serum insulin levels; however, in the linear regression model, (CAG)n was the only variable independently associated with BMI, in an inverse manner (R = −0.396, p = 0.015). In this report, we present evidence that low BMI is not only present in SCA3/MJD, but is also directly related to the length of the expanded CAG repeats, which is the causative mutation of the disease. This association points that weight loss might be a primary disturbance of SCA3/MJD, although further detailed analyses are necessary for a better understanding of the nutritional deficit and its role in the pathophysiology of SCA3/MJD.
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Acknowledgments
The authors would like to thank the patients and their controls for their participation in our study. This research was supported by the Brazilian funding agencies FIPE-HCPA, CNPq, FINEP, INAGEMP, and FAPERGS. MLSP, LVCP, and LBJ are supported by CNPq.
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Saute, J.A.M., da Silva, A.C.F., Souza, G.N. et al. Body Mass Index is Inversely Correlated with the Expanded CAG Repeat Length in SCA3/MJD Patients. Cerebellum 11, 771–774 (2012). https://doi.org/10.1007/s12311-011-0326-6
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DOI: https://doi.org/10.1007/s12311-011-0326-6