Unverricht-Lundborg disease and ceroid lipofuscinoses

作者：Lehesjoki Anna Elina^*; Gardiner Richard Mark

来源：Epilepsia, 2010, 51: 76-76.

DOI：10.1111/j.1528-1167.2010.02862.x

• Cystatin B
• Cognitive decline
• Gene mutation
• Myoclonus epilepsy
• Neurodegenerative disorder
• Seizures

P>Unverricht-Lundborg disease is a neurodegenerative disorder characterized by stimulus-sensitive myoclonus, epileptic seizures, and ataxia. It is associated with mutations in the Cystatin B gene. The neuronal ceroid lipofuscinoses are a heterogeneous group of disorders characterized by the intracellular accumulation of autofluorescent lipopigment. Mutations in eight genes have been identified. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AC, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at http://www.ncbi.nlm.nih.gov/books).

• 出版日期2010-12