TY - JOUR
T1 - Vascular variant of prion protein cerebral amyloidosis with τ-positive neurofibrillary tangles
T2 - The phenotype of the stop codon 145 mutation in PRNP
AU - Ghetti, Bernardino
AU - Piccardo, Pedro
AU - Spillantini, Maria Grazia
AU - Ichimiya, Yousuke
AU - Porro, Monica
AU - Perini, Francesco
AU - Kitamoto, Tetsuyuki
AU - Tateishi, Jun
AU - Seiler, Charles
AU - Frangione, Blas
AU - Bugiani, Orso
AU - Giaccone, Giorgio
AU - Prelli, Frances
AU - Goedert, Michel
AU - Dlouhy, Stephen R.
AU - Tagliavini, Fabrizio
PY - 1996/1/23
Y1 - 1996/1/23
N2 - Deposition of PrP amyloid in cerebral vessels in conjunction with neurofibrillary lesions is the neuropathologic hallmark of the dementia associated with a stop mutation at codon 145 of PRNP, the gene encoding the prion protein (PrP). In this disorder, the vascular amyloid in tissue sections and the ≃7.5-kDa fragment extracted from amyloid are labeled by antibodies to epitopes located in the PrP sequence including amino acids 90- 147. Amyloid-laden vessels are also labeled by antibodies against the C terminus, suggesting that PrP from the normal allele is involved in the pathologic process. Abundant neurofibrillary lesions are present in the cerebral gray matter. They are composed of paired helical filaments, are labeled with antibodies that recognize multiple phosphorylation sites in τ protein, and are similar to those observed in Alzheimer disease. A PrP cerebral amyloid angiopathy has not been reported in diseases caused by PRNP mutations or in human transmissible spongiform encephalopathies; we propose to name this phenotype PrP cerebral amyloid angiopathy (PrP-CAA).
AB - Deposition of PrP amyloid in cerebral vessels in conjunction with neurofibrillary lesions is the neuropathologic hallmark of the dementia associated with a stop mutation at codon 145 of PRNP, the gene encoding the prion protein (PrP). In this disorder, the vascular amyloid in tissue sections and the ≃7.5-kDa fragment extracted from amyloid are labeled by antibodies to epitopes located in the PrP sequence including amino acids 90- 147. Amyloid-laden vessels are also labeled by antibodies against the C terminus, suggesting that PrP from the normal allele is involved in the pathologic process. Abundant neurofibrillary lesions are present in the cerebral gray matter. They are composed of paired helical filaments, are labeled with antibodies that recognize multiple phosphorylation sites in τ protein, and are similar to those observed in Alzheimer disease. A PrP cerebral amyloid angiopathy has not been reported in diseases caused by PRNP mutations or in human transmissible spongiform encephalopathies; we propose to name this phenotype PrP cerebral amyloid angiopathy (PrP-CAA).
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U2 - 10.1073/pnas.93.2.744
DO - 10.1073/pnas.93.2.744
M3 - Article
C2 - 8570627
AN - SCOPUS:13344295093
VL - 93
SP - 744
EP - 748
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
SN - 0027-8424
IS - 2
ER -