Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders characterized by degenerative symptoms in the cerebellum, spinal cord, and brain stem.
Six different genes havc been reported to be associated with ADCA, and the length of trinucleotide repeats of these genes is correlated with the age at onset and severity of symptoms.
Although there are strong hereditary effects in these disorders, most of the studies carried out in heterogeneous populations and in small groups obscure the true incidence of these diseases.
We examined the frequency of six types of ADCAs in 87 unrelated Korean patients with progressive ataxia and compared the results to the frequencies in other ethnic groups.
Spinocerebellar ataxia (SCA) type 2 was the most frequent hereditary ataxia (12.6%) and types 3 and 6 accounted for 4.6% and 6.9% of ataxia patients. respectively.
Dentatorubral pallidoluysian atrophy was also found in three patients (3.4%). No instances of SCA types I or 7 were detected.
These findings show the striking contrast to the white population and a difference from Japanese findings.
Our results demonstrate that dentatorubral pallidoluysian atrophy should be included in the differential diagnosis of Korean patients with spinocerebellar ataxia, and that there are strong hereditary effects in patients with ADCAs.
Mots-clés Pascal : Atrophie dentatorubropallidoluysienne, Caractère autosomique, Caractère dominant, Prévalence, Type, Génotype, Corée, Asie, Mutation, Epidémiologie, Déterminisme génétique, Etude comparative, Homme, Encéphale pathologie, Système nerveux central pathologie, Système nerveux pathologie, Maladie dégénérative, Maladie héréditaire, Moelle épinière pathologie, Ataxie spinocérèbelleuse
Mots-clés Pascal anglais : Dentatorubropallidoluysian atrophy, Autosomal character, Dominant character, Prevalence, Type, Genotype, Korea, Asia, Mutation, Epidemiology, Genetic determinism, Comparative study, Human, Cerebral disorder, Central nervous system disease, Nervous system diseases, Degenerative disease, Genetic disease, Spinal cord disease, Spinocerebellar ataxia
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0233075
Code Inist : 002B17G. Création : 16/11/1999.