Unverricht-Lundborg disease

Last revised by Daniel J Bell on 7 Jun 2020

Unverricht-Lundborg disease (ULD or EPM1) inherited neurodegenerative disorder which often results in a progressive myoclonic epilepsy.

It is considered the most common single cause of progressive myoclonic epilepsy worldwide.

It carries an autosomal recessive inheritance and is caused due to a mutation in the cystatin B gene (CSTB). 

There can be widespread alterations in subcortical white matter, the thalamocortical system, and the cerebellum, which result in axonal degeneration and white matter loss.

Calvarial thickening may be present 3.

The disease is named after Heinrich Unverricht, who first described it in 1891, and Herman Bernhard Lundborg, who researched it in greater detail in 1903. 

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