A novel phenotype of sporadic Creutzfeldt-Jakob disease.
An atypical case of sporadic Creutzfeldt-Jakob disease (CJD) is described in a 78-year-old woman homozygous for methionine at codon 129 of the prion protein (PrP) gene. The neuropathological signature was the presence of PrP immunoreactive plaque-like deposits in the cerebral cortex, striatum and thalamus. Western blot analysis showed a profile of the pathological form of PrP (PrP(Sc)) previously unrecognised in sporadic CJD, marked by the absence of diglycosylated protease resistant species. These features define a novel neuropathological and molecular CJD phenotype.
Giaccone
G
G
Istituto Nazionale Neurologico Carlo Besta, via Celoria 11, Milano 20133, Italy. giaccone@istituto-besta.it
Di Fede
G
G
Mangieri
M
M
Limido
L
L
Capobianco
R
R
Suardi
S
S
Grisoli
M
M
Binelli
S
S
Fociani
P
P
Bugiani
O
O
Tagliavini
F
F
D000368:Aged; D000906:Antibodies / Q000276:immunology; D000911:Antibodies, Monoclonal / Q000276:immunology; D000978:Antiparkinson Agents / Q000627:therapeutic use; D015153:Blotting, Western; D001921:Brain / Q000276:immunology / Q000473:pathology; D003062:Codon / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007980:Levodopa / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008715:Methionine / Q000235:genetics; D020734:Parkinsonian Disorders / Q000188:drug therapy; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D018620:PrPSc Proteins / Q000235:genetics* / Q000276:immunology; D014633:Valine / Q000235:genetics
D000906:Antibodies; D000911:Antibodies, Monoclonal; D000978:Antiparkinson Agents; D003062:Codon; D018620:PrPSc Proteins; D007980:Levodopa; D008715:Methionine; D014633:Valine