Article
Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene.
Brain pathology (Zurich, Switzerland) - 1 Sept 2011
Hagen Matthew C, Murrell Jill R, Delisle Marie-Bernadette, Andermann Eva, Andermann Frederick, Guiot Marie Christine, Ghetti Bernardino
Abstract excerpt
Neuroserpin encephalopathy is an autosomal-dominant degenerative disease associated with mutations in the Proteinase Inhibitor 12 (PI12) gene. A 26-year-old male presented with progressive myoclonus epilepsy and declining mental status. He had failed in university studies because of impaired attention, memory and concentration. Generalized seizures started to occur approximately once a month, and he developed...
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