Survival estimates for patients with Machado-Joseph disease (SCA3)

Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative disease that starts during adulthood, with patients showing difficulties in gait, later becoming bedridden, and ultimately presenting premature death. There is, however, scarce data...

Full description

Saved in:
Bibliographic Details
Published in:Clinical genetics 2007-12, Vol.72 (6), p.543-545
Main Authors: Kieling, C, Prestes, PR, Saraiva-Pereira, ML, Jardim, LB
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Aged
Ataxin-3
Biological and medical sciences
Child
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
disease
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Humans
Machado-Joseph
Machado-Joseph Disease - genetics
Machado-Joseph Disease - mortality
Male
Medical genetics
Medical sciences
Middle Aged
Molecular and cellular biology
Nerve Tissue Proteins - genetics
Neurology
Nuclear Proteins - genetics
polyglutamine diseases
Repressor Proteins - genetics
SCA3
spinocerebellar ataxia
survival
Survival Rate
Trinucleotide Repeat Expansion
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative disease that starts during adulthood, with patients showing difficulties in gait, later becoming bedridden, and ultimately presenting premature death. There is, however, scarce data quantifying disease impact on patient survival. We investigated the overall survival of a large series of MJD patients and compared it with the survival of their asymptomatic relatives. A total of 412 affected and 413 unaffected individuals were ascertained from a consecutive sample of 82 families with a molecular diagnosis of MJD. Estimated mean survival time was 63.96 years [95% confidence interval (CI), 62.09–65.83] for the affected group and 78.61 years (95% CI, 74.75–82.47) for the unaffected group (p 
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2007.00910.x