title: Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.
abstract: Creutzfeldt-Jakob disease (CJD) is typically characterized by rapidly progressive dementia and myoclonus, and it is caused by a conformational change of the prion protein. The heritable forms are associated with mutation in the gene encoding the prion protein (PRNP). We report a 63-year-old Italian woman harboring the E200K PRNP mutation. Electroencephalogram, cerebrospinal fluid analysis, PRNP gene sequencing, histopathologic examination, immunohistochemical studies, and Western blotting analysis confirmed the diagnosis of CJD. Pyramidal involvement was the first sign and the prominent clinical feature. Later on, she developed also myoclonus, ataxia, spastic tetraplegia, and at last dementia with akinetic mutism. Usually, signs of degeneration of the pyramidal tracts occur in a small number of patients as the disease advances. Our report supports the variability of the clinical expression of the E200K genetic CJD. Further studies are needed to understand the molecular basis underlying the phenotypic variability among patients carrying this mutation.
authors: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy. mmancuso@inwind.it
authors: Michelangelo
authors: M
authors: Mancuso
authors: Gabriele
authors: G
authors: Siciliano
authors: Sabina
authors: S
authors: Capellari
authors: Daniele
authors: D
authors: Orsucci
authors: Policarpo
authors: P
authors: Moretti
authors: Giuseppe
authors: G
authors: Di Fede
authors: Silvia
authors: S
authors: Suardi
authors: Rosaria
authors: R
authors: Strammiello
authors: Piero
authors: P
authors: Parchi
authors: Fabrizio
authors: F
authors: Tagliavini
authors: Luigi
authors: L
authors: Murri
mesh_terms: D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018698:Glutamic Acid / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics* / Q000378:metabolism
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D018698:Glutamic Acid; D008239:Lysine