Article
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.
Neurology - 24 Apr 2007
Gómez-Garre P, Gutiérrez-Delicado E, Gómez-Abad C, Morales-Corraliza J, Villanueva V E, Rodríguez de Córdoba S, Larrauri J, Gutiérrez M, Berciano J, Serratosa J M
Abstract excerpt
BACKGROUND: Lafora disease (LD; progressive myoclonus epilepsy type 2; EPM2) is an autosomal recessive disorder caused by mutations in the EPM2A and EPM2B genes. LD is characterized by the presence of strongly PAS-positive intracellular inclusions (Lafora bodies) in several tissues. Glycogen storage disease type IV (GSD-IV; Andersen disease) is an autosomal recessive disorder characterized by cirrhosis leading to...
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