Unverricht-Lundborg disease
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Unverricht-Lundborg disease. This is caused by mutations in the CSTB gene on chromosome 21. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the CSTB gene on chromosome 21
- The gene encodes cystatin B: this is a cysteine protease inhibitor
- The transmission is autosomal recessive
- It is the commonest cause of progressive myoclonic epilepsy (PME)
- The onset age is 6-16 years
Clinical features
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Electroencephalogram (EEG): features
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Magnetic resonance imaging (MRI) brain: features
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Treatment
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AEDs which may worsen seizures
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References
- Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.
- Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 2008; 49:549-556.
