The abovementioned symptoms, especially in combination with a positive family anamnesis.
Unverricht-Lundborg Disease, ULD - CSTB
Clinical Features
Unverricht-Lundborg Disease (ULD) begins between a patient's 6th and 15th year of life and is the most common variant of progressive myoclonus epilepsy in Finland (the disease has also been described in other countries). Multifocal myoclonic seizures are characteristic of the disease; triggers are often certain postures, movements, or external stimuli. Tonic-clonic and other seizures may also occur. Neurological symptoms are progressive and include cerebellar ataxia, dysarthria, and growing dementia.
Genetic Information
Unverricht-Lundborg Disease follows an autosomal recessive pattern of inheritance are is caused by mutations in the Cystatin B (CSTB, 21q22.3) gene. CSTB is a protease inhibitor with an arrest function for apoptosis.
Prevalence
1: 20 000 newborns in Finland
Diagnostic
Indication
Method
All exons as well as their flanking regions are analyzed using DNA sequencing.
Sample Requirement
2 - 4 ml of EDTA-blood
Duration
2 - 3 weeks