Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia of adult onset with a high prevalence in the islands of Azores (Portugal).
The genetic epidemiological studies presently under way in these islands are based on the genealogical reconstruction of the affected families, thus partially depending on the reference of patients using family history.
A considerable effort has been made to obtain genealogies that are as complete as possible, making use of different types of data.
The utility of the death causes contained in the death registers of the patients with MJD was determined in this study.
To estimate the extent to which the cause of death reported in the death register can confirm other reports of an individual's status for the disease (ie, oral information), and to determine the accuracy of the death certificates in listing MJD in patients whose disease was clinically diagnosed.
The death registers of 113 patients with MJD (82 whose disease was identified by history and 31 whose disease was clinically diagnosed) were examined and compared with those of controls matched by sex and date and place of death.
There were significant differences in the causes of death between cases and controls, both for those whose disease was identified by history (X2=51.69, P<. 001) and for those whose disease was identified by examination (X2=27.78, P=004). (...)
Mots-clés Pascal : Hérédodégénérescence spinocérébelleuse, Portugal, Europe, Mort, Certificat décès, Etiologie, Epidémiologie, Homme, Système nerveux pathologie, Système nerveux central pathologie, Moelle épinière pathologie, Encéphale pathologie, Maladie dégénérative, Maladie héréditaire, Machado Joseph maladie, Ataxie cérébelleuse
Mots-clés Pascal anglais : Spinocerebellar heredodegeneration, Portugal, Europe, Death, Death certificate, Etiology, Epidemiology, Human, Nervous system diseases, Central nervous system disease, Spinal cord disease, Cerebral disorder, Degenerative disease, Genetic disease, Cerebellar ataxia
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0503515
Code Inist : 002B17G. Création : 19/02/1999.