Related Experiment Video
Updated: Jul 11, 2026
06:28
Simplified Intrafemoral Injections Using Live Mice Allow for Continuous Bone Marrow Analysis
Published on: November 10, 2023
Survival estimates for patients with Machado-Joseph disease (SCA3)
C Kieling1, P R Prestes, M L Saraiva-Pereira
1Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
Clinical Genetics
|September 27, 2007
Summary
Machado-Joseph disease (MJD) significantly reduces patient survival by approximately 15 years compared to unaffected relatives. Early onset and longer CAG repeat lengths are linked to shorter survival in MJD patients.
Area of Science:
- Neuroscience
- Genetics
- Epidemiology
Background:
- Machado-Joseph disease (MJD), a prevalent autosomal dominant cerebellar ataxia, is a progressive neurodegenerative disorder.
- MJD impacts adult patients, leading to gait impairment, immobility, and premature death.
- Quantitative data on MJD's effect on patient survival is limited.
Purpose of the Study:
- To investigate and quantify the overall survival of a large cohort of MJD patients.
- To compare the survival rates of MJD patients with their asymptomatic relatives.
- To identify factors influencing survival in MJD.
Main Methods:
- Retrospective analysis of 412 MJD patients and 413 unaffected relatives from 82 families with molecular MJD diagnosis.
- Comparison of estimated mean survival times between affected and unaffected groups.
- Analysis of survival duration post-disease onset and correlation with age at onset and CAG repeat length.
Main Results:
- Estimated mean survival was 63.96 years for MJD patients versus 78.61 years for unaffected individuals (p < 0.001).
- For a subset of 366 patients, mean age at onset was 36.37 years, with an average survival of 21.18 years post-onset.
- Shorter overall survival was significantly associated with earlier age at onset and longer CAG repeat lengths.
Conclusions:
- Machado-Joseph disease substantially reduces overall survival.
- CAG repeat length and age at onset are critical predictors of survival in MJD.
- This study provides crucial quantitative data on MJD's impact on lifespan.
Related Concept Videos
01:21Cancer Survival Analysis
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
01:15Assumptions of Survival Analysis
Survival models analyze the time until one or more events occur, such as death in biological organisms or failure in mechanical systems. These models are widely used across fields like medicine, biology, engineering, and public health to study time-to-event phenomena. To ensure accurate results, survival analysis relies on key assumptions and careful study design.