Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.
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.
Mancuso
Michelangelo
M
Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy. mmancuso@inwind.it
Siciliano
Gabriele
G
Capellari
Sabina
S
Orsucci
Daniele
D
Moretti
Policarpo
P
Di Fede
Giuseppe
G
Suardi
Silvia
S
Strammiello
Rosaria
R
Parchi
Piero
P
Tagliavini
Fabrizio
F
Murri
Luigi
L
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
C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D018698:Glutamic Acid; D008239:Lysine