Calendário de Defesas e Seminários

Data: Segunda-feira, 23 de Setembro de 2019 (10:30 - 23:59)

Quality of Life changes and Body Mass Index profile in Machado Joseph Disease
Orientadora: Dra.  Laura Bannach Jardim
Coorientadora: Dra.  Maria Luiza Saraiva-Pereira
Banca Examinadora: Dra. Lavínia Schüler-Faccini e Dr. Claiton Henrique Dotto Bau


Introduction: Spinocerebellar ataxia type 3 or Machado-Joseph Disease (SCA3/MJD)is a neurodegenerative disorder that plays with many cerebellar and non-cerebellar motor and non-motor symptoms. The pre-ataxic period of SCA3/MJD has been the focus of natural history studies worldwide.Body mass index (BMI) and peripheral sensitivity to insulin (PSI) are altered in SCA3/MJD, and contradictory associations have been described with disease progression or with mutation severity. Quality of Life has been increasingly valued as an outcome in clinical research for its importance in displaying the patient’s perspective over illnesses and healing. Changes in QoL have been previously reported in symptomatic phases of SCA3/MJD, but never have pre-ataxic phases been investigated. Methods: In this study we reviewed previous results on BMI and PSI by means of expanding our sample size, as well as we investigated QoL in pre-ataxic and symptomatic phases of SCA3/MJD by means of self-reported QoL measurements (EQ-5D and SF-36). All subjects underwent neurological assessments with clinical scales. Results: Both studies included symptomatic, pre-ataxic and controls in different proportions: the study on BMI and PSI included 294 subjects and the QoL assessment included 89 subjects. BMI of carriers was lower than BMI of controls, and logHOMA2-%S of carriers was higher than of controls. Only HOMA2-%S explained BMI on linear regression, and HOMA2-%S was only correlated to BMI. The QoL assessments showed stepwise changes in QoL from controls to symptomatic. NESSCA was the scale that better correlated to general measurements of QoL, and SCAFI and CCFS were the scales that correlated with the largest number of QoL parameters. Discussion: Although low BMI and high PSI are clearly associated with the carrier status in SCA3/MJD and are quite interrelated, they did not seem to present good potential to be used as biomarkers of neurological progression in SCA3/MJD. Early symptomatic stages of SCA3/MJD were associated with poorer Quality of life when compared to controls. Observed replies suggest a continuum of worsening from pre-ataxic to symptomatic, and it conveys that, even before the disease onset, carriers might already have some loss of quality of life.Clinical Scales do reflect important outcomes for patients, at least to some extent, and NESSCA might be the one evaluating aspects that better reflect the general impression of health and quality of life for these patients.

Local  Anfiteatro do Departamento de Genética, Prédio 43312, Campus do Vale/UFRGS
Contato: PPGBM - Av. Bento Gonçalves, 9500 - Prédio 43312 M - Telefone: (51)3308-6722 / E-mail:
por Tamara Moch