Unverricht-Lundborg disease

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

Epidemiology

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

Pathology

Genetics

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

Radiographic features

MRI brain

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 .

History and etymology

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.