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• W2786565720 abstract "OBJECTIVE: To study the body mass composition and insulin sensitivity of pre-symptomatic and early stages MJD/SCA3 individuals. BACKGROUND: Machado-Joseph disease (MJD/SCA3), caused by a CAG repeat expansion (CAGn) at ATXN3 gene, is usually considered a pure neurological disorder. We have recently described low body mass index (BMI) and high peripheral insulin sensitivity in MJD/SCA3 questioning this concept. DESIGN/METHODS: Anthropometry, bioimpedance and glicemic curves, as well as SARA and NESSCA scales, were performed in 44 MJD/SCA3 patients [≤10y of disease duration (DD)] and 41 healthy controls with similar environmental background. Pre-symptomatic individuals are under recruitment. RESULTS: Patients and controls did not differ in age and gender proportions. MJD/SCA3 patients had a m±sd of 35±10 years of Age at Onset (AO), 5.7±2 years of DD, and 75±3 CAGn. The following data (m±sd) were obtained in cases and in controls: BMI of 24.3±4.3 and 27.4±6.5kg/m2 (p=0.011), lean mass of 74.3±8.5% and 71.9±8.6% (ns), basal metabolic rate (BMR) of 23.2±2.6 and 22.4±2.6cal/kg (ns), fasting glucose (FG) of 89.2±8.8 and 94.6±8.2mg/dL (p=0.005) and after an oral glucose tolerance test (GTT, 120min), of 88.3±28 and 105.6±32.6mg/dL (p=0.011). BMI was related to CAGn (R=-0.475, p=0.001) and AO (R=0.485, p=0.001), with no relation to SWAL-Qol dysphagia scale (ns). FG was related to CAGn (R=-0.303, p=0.049) and GTT to AO (R=0.470, p=0.002), independently of CAGn, its main determinant. CONCLUSIONS: Weight loss in MJD/SCA3 affects both lean and fat body masses and is detectable since the first years of disease. Nutritional alterations seem to be primarily related to the disease causative mutation (CAGn) and alterations in insulin pathways might act as disease phenotype modifier. Supported by: FIPE-HCPA, FAPERGS, CNPq, INAGEMP. Disclosure: Dr. Saute has nothing to disclose. Dr. Russo has nothing to disclose. Dr. Souza has nothing to disclose. Dr. Moreira has nothing to disclose. Dr. Muller has nothing to disclose. Dr. Haas has nothing to disclose. Dr. Torrez has nothing to disclose. Dr. Monte has nothing to disclose. Dr. Castilhos has nothing to disclose. Dr. D9Avila has nothing to disclose. Dr. Donis has nothing to disclose. Dr. Schumacher-Schuh has nothing to disclose. Dr. Saraiva-Pereira has nothing to disclose. Dr. Souza has nothing to disclose. Dr. Portela has nothing to disclose. Dr. Jardim has nothing to disclose." @default.
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• W2786565720 date "2013-02-12" @default.
• W2786565720 modified "2023-09-26" @default.
• W2786565720 title "Weight Loss and Increase Insulin Sensitivity in Early Stage Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Patients (PD2.004)" @default.
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