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Dentatorubral-pallidoluysian atrophy is a neurodegenerative disease for which the age of onset and clinical features are extremely variable: onset ranges from early childhood to over age 60 years of age, and whilst the early forms are marked by progressive myoclonic epilepsy associated with dementia, later onset forms are characterised by cerebellar ataxia and choreathetosis. This disease is extremely rare in Europe, affecting fewer than 1 in 1 million individuals, but the prevalence is much higher in Japan. The syndrome is transmitted as an autosomal dominant trait. The mutation causing the disease is an expansion of repeated trinucleotides in a gene located on chromosome 12. Molecular genetic testing is available to confirm the diagnosis. Treatment is symptomatic only (for example administration of antiepileptics) and should be associated with physiotherapy. However, the clinical course of the disease is always progressive, leading to loss of autonomy after 5 to 20 years. |