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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.
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.
- 1. Manninen O, Koskenkorva P, Lehtimäki KK et-al. White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice. Radiology. 2013;269 (1): 232-9. doi:10.1148/radiol.13122458 - Pubmed citation
- 2. Joensuu T, Lehesjoki AE, Kopra O. Molecular background of EPM1-Unverricht-Lundborg disease. Epilepsia. 2008;49 (4): 557-63. doi:10.1111/j.1528-1167.2007.01422.x - Pubmed citation
- 3. Suoranta S, Manninen H, Koskenkorva P et-al. Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism. Bone. 2012;51 (6): 1016-24. doi:10.1016/j.bone.2012.08.123 - Pubmed citation