Purpose: Univerricht-Lundborg disease (ULD), with its major symptom of action myoclonus, is supposed to be very rare in the Netherlands and western Europe. We hypothesized that the syndrome may be underdiagnosed in patients with myoclonus epilepsy.
Methods: Mutation analysis of the cystatin B gene was performed in 21 cases with uncontrolled myoclonus.
Results: Seven of the 21 evaluated cases carried mutations in the cystatin B gene. Diagnosis of ULD was made with a mean delay of 20 years from symptom onset.
Conclusions: This study from a country without previous reports of ULD suggests that underdiagnosis of the syndrome is likely. These findings also indicate that persons with juvenile-onset myoclonus epilepsy with action myoclonus should be analyzed for ULD.
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Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
Epilepsia
September 2004
Epilepsy Institute of the Netherlands SEIN, Heemstede, the Netherlands.
Purpose: Univerricht-Lundborg disease (ULD), with its major symptom of action myoclonus, is supposed to be very rare in the Netherlands and western Europe. We hypothesized that the syndrome may be underdiagnosed in patients with myoclonus epilepsy.
Methods: Mutation analysis of the cystatin B gene was performed in 21 cases with uncontrolled myoclonus.
Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.
Ann Med
October 1998
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Progressive myoclonus epilepsy of the Unverricht-Lundborg type is the most common cause of progressive myoclonus epilepsy worldwide. Typical features include onset at the age of 6-15 years, stimulus-sensitive myoclonus, tonic-clonic seizures, a progressive course and characteristic electroencephalographic findings with an exceptionally high sensitivity to photic stimulation. With modern anticonvulsive therapy the symptoms are relatively well controlled, and the disease may not always progress.
View Article and Find Full Text PDFLocalization of a gene for progressive myoclonus epilepsy to chromosome 21q22.
Proc Natl Acad Sci U S A
May 1991
Department of Medical Genetics, University of Helsinki, Finland.
Progressive myoclonus epilepsy of Univerricht-Lundborg type is a clinically defined entity among the progressive myoclonus epilepsies. It is an autosomal recessive disorder. The underlying biochemical defect is unknown.
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