Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15.
Mutations in the CSTB gene cause Unverricht-Lundborg disease. The CSTB gene provides instructions for making a protein called cystatin B. This protein reduces the activity of enzymes called cathepsins. Cathepsins help break down certain proteins in the lysosomes (compartments in the cell that digest and recycle materials). While the specific function of cystatin B is unclear, it may help protect the cells' proteins from cathepsins that leak out of the lysosomes.
Progressive myoclonus epilepsy is a rare condition. Unverricht-Lundborg disease is believed to be the most common cause of this type of epilepsy, but its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most frequently in Finland, where approximately 4 in 100,000 people are affected.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Laura Canafoglia is in Milan, Italy. Canafoglia is rated as an Elite expert by MediFind in the treatment of Unverricht-Lundborg Syndrome. She is also highly rated in 27 other conditions, according to our data. Her top areas of expertise are Progressive Myoclonic Epilepsy, Unverricht-Lundborg Syndrome, Dentatorubral-Pallidoluysian Atrophy, and Lafora Disease.
Reetta Kalviainen is in Kuopio, Finland. Kalviainen is rated as an Elite expert by MediFind in the treatment of Unverricht-Lundborg Syndrome. They are also highly rated in 15 other conditions, according to our data. Their top areas of expertise are Unverricht-Lundborg Syndrome, Progressive Myoclonic Epilepsy, Lafora Disease, and Dentatorubral-Pallidoluysian Atrophy.
Silvana Franceschetti is in Milan, Italy. Franceschetti is rated as an Elite expert by MediFind in the treatment of Unverricht-Lundborg Syndrome. She is also highly rated in 30 other conditions, according to our data. Her top areas of expertise are Unverricht-Lundborg Syndrome, Progressive Myoclonic Epilepsy, Lafora Disease, and Dentatorubral-Pallidoluysian Atrophy.
Published Date:updated Last, June
Published By: National Institutes of Health