Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene.
The authors investigated two unrelated patients with Creutzfeldt-Jakob disease (CJD) with clinical features of sporadic CJD (sCJD) carrying one extra octapeptide repeat in the prion protein (PrP) gene (PRNP). A synaptic type PrP distribution throughout the cerebral gray matter and plaque-like PrP deposits in the subcortical gray structures were detected immunocytochemically. The different patterns of PrP deposition were associated with distinct types of protease-resistant PrP, similar to type 1 and type 2 of sCJD. The features suggest that this insertion is a pathogenic mutation.
Pietrini
V
V
Department of Neuroscience, Institute of Neurology, University of Parma, Italy. vladimiro.pietrini@unipr.it
Puoti
G
G
Limido
L
L
Rossi
G
G
Di Fede
G
G
Giaccone
G
G
Mangieri
M
M
Tedeschi
F
F
Bondavalli
A
A
Mancia
D
D
Bugiani
O
O
Tagliavini
F
F
D048948:14-3-3 Proteins; D000682:Amyloid / Q000235:genetics*; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics*; D004569:Electroencephalography; D010450:Endopeptidases / Q000737:chemistry; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D000072002:Prion Proteins; D011328:Prions / Q000737:chemistry / Q000235:genetics*; D011498:Protein Precursors / Q000235:genetics*; D014446:Tyrosine 3-Monooxygenase / Q000134:cerebrospinal fluid; D016875:tau Proteins / Q000134:cerebrospinal fluid
D048948:14-3-3 Proteins; D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors; D016875:tau Proteins; D014446:Tyrosine 3-Monooxygenase; D010450:Endopeptidases