Unverricht-Lundborg disease

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

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

Genetics

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

MRI brain

There can be widespread alterations in subcortical wthie 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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Article Information

rID: 41407
Synonyms or Alternate Spellings:
  • EPM1
  • Unverricht-Lundborg disease (ULD)
  • Unverricht-Lundborg progressive myoclonus epilepsy

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