Session Information
Date: Wednesday, June 22, 2016
Session Title: Ataxia
Session Time: 12:00pm-1:30pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To describe body composition and peripheral sensitivity to insulin (PSI) in early stage and presymptomatic spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD) individuals and to correlate the findings with disease severity and expanded CAG repeat length at ATXN3 gene.
Background: SCA3/MJD is the most frequent SCA worldwide and its phenotype was previously described as exclusively neurologic until the descriptions of reduced body mass index (BMI) and increased PSI in moderate/advanced disease.
Methods: A case control study was conducted. BMI, lean (LMI) and fat mass index (FMI), %lean mass (%LM) and basal metabolic ratio/weight (BMR) were determined with bioimpedance. Fast insulin and glucose, and glucose 2h post 75g glucose load test (GLT) were measured. >10 years of disease duration or previous endocrine disease diagnosis were exclusion criteria. Mean±sd and logarithmic (Ln) transformation for non-parametric data are provided.
Results: 65 symptomatic SCA3/MJD (age 41±9y, 34 females, duration: 6±2y, CAGn: 75±3; Scale for the Assessment and Rating of Ataxia – SARA: 10±4) and 48 healthy control subjects (age 40±13y, 28 females) were recruited. LnBMI (p=0.103), %LM (p=0.175) and BMR (0.176) were similar between groups. LnBMI was inversely correlated with CAGn (R=-0.541, p=0.001). LnLMI was lower in cases (2.87±0.1) than in controls (2.92±0.1, p=0.03). LnLMI and LnFMI inversely correlated with CAGn. In a subgroup analysis of <38 years individuals (29 cases/24 controls), cases presented lower BMI, %LM, BMR, LnLMI, LnFMI (p<0.001). 12 presymptomatic individuals (age 32.4±8.1y; 7 females; CAGn:73.5±3) carriers of ATXN3 expansions were evaluated. No differences were seen between presymptomatic individuals and controls or symptomatic SCA3/MJD patients in body composition parameters. Again, an inverse correlation of LnBMI and CAGn was seen in presymptomatic group (R=-0.585, p=0.046). Glucose after GLT was lower in cases than in the controls (p=0.007) with a direct correlation with age at onset (R=0.585, p=0.033), independent from CAGn. No differences in GLT were seen among presymptomatic, symptomatic and control groups (p=0.997).
Conclusions: : In early stages of SCA3/MJD, low BMI is present only in younger individuals, with larger CAGn. Early SCA3/MJD present higher PSI, which is more evident for individuals with early disease onset (independent from CAGn), suggesting a disease modifier effect.
To cite this abstract in AMA style:
J.A. Saute, S.N. Gabriele, C.B. Haas, V.R. Torrez, A.W. Brochier, G.V. Furtado, T.C. Gheno, A.D. Russo, T.L. Monte, A. Schumacher-Schuh, R. D´Avila, K.C. Donius, R.M. Castilhos, D.O. Souza, M.L. Saraiva-Pereira, V.L. Torman, S.A. Camey, C.R.M. Rieder, L.V.C. Portela, L.B. Jardim. Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph disease [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/peripheral-insulin-sensitivity-and-body-composition-alterations-in-early-stage-machado-joseph-disease/. Accessed December 11, 2024.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/peripheral-insulin-sensitivity-and-body-composition-alterations-in-early-stage-machado-joseph-disease/