Amyloid Imaging with AV45 (18F-florbetapir) in a Cognitively Normal Aβ PP Duplication Carrier

被引：4

作者：

Saint-Aubert, Laure ^{[1
,2
,3
]}

Planton, Melanie ^{[1
,2
,4
]}

Hannequin, Didier ^{[5
,6
]}

Albucher, Jean-Francois ^{[1
,2
,4
]}

Delisle, Marie-Bernadette ^{[7
]}

Payoux, Pierre ^{[1
,8
]}

Hitzel, Anne ^{[1
,8
]}

Viallard, Gerard ^{[1
,2
]}

Peran, Patrice ^{[1
,2
]}

Campion, Dominique ^{[5
,6
]}

Laquerriere, Annie ^{[9
]}

Barbeau, Emmanuel J. ^{[3
]}

Puel, Michele ^{[1
,2
,4
]}

Raposo, Nicolas ^{[1
,2
,4
]}

Chollet, Francois ^{[1
,2
,4
]}

Pariente, Jeremie ^{[1
,2
,4
]}

机构：

[1] CHU Purpan, INSERM, Imagerie Cerebrale & Handicaps Neurol UMR 825, F-31059 Toulouse 9, France

[2] Univ Toulouse, UPS, Imagerie Cerebrale & Handicaps Neurol UMR 825, CHU Purpan, Toulouse, France

[3] Univ Toulouse, UPS, Ctr Rech Cerveau & Cognit, CNRS,CerCo, Toulouse, France

[4] CHU Purpan, Ctr Hosp Univ Toulouse, Serv Neurol, F-31059 Toulouse 9, France

[5] INSERM, U164, CNR MAJ, Fac Med, Rouen, France

[6] CHU Rouen, Dept Neurol, Rouen, France

[7] UPS, Fac Med Rangueil, Serv Anat Pathol & Histol Cytol, CHU Rangueil Larrey,INSERM,CRCT,U1087, Toulouse, France

[8] CHU Purpan, Ctr Hosp Univ Toulouse, Nucl Med Serv, F-31059 Toulouse 9, France

[9] CHU Charles Nicolle, Serv Anat & Cytol Pathol, Rouen, France

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2012年 / 28卷 / 04期

关键词：

A beta PP duplication; Alzheimer's disease; amyloid; AV45; PET; cerebral amyloid angiopathy; genetics; MRI; APP LOCUS DUPLICATION; ONSET ALZHEIMER-DISEASE; PITTSBURGH-COMPOUND-B; ANGIOPATHY; DIAGNOSIS; PET; IMPAIRMENT; HEMORRHAGE; PATHOLOGY; DEMENTIA;

D O I：

10.3233/JAD-2011-111598

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We report the case of a 62-year-old asymptomatic carrier of A beta PP gene duplication. He was investigated by MRI and the amyloid ligand F-18-AV45, and compared to Alzheimer's disease patients (n = 11) and healthy controls ( n = 11). The neuropsychological examination was normal. Cortical thickness and AV45 retention were comparable to Alzheimer's disease patients. A beta PP duplication was diagnosed because cerebral amyloid angiopathy and Alzheimer's disease pathology were found on the neuropathological examination of his youngest brother, who died at 42 from intracerebral hemorrhage. This is the first description of a pre-symptomatic A beta PP duplication carrier over 60, despite widespread cerebral amyloid angiopathy, "Alzheimer's like" atrophy, and amyloid deposition.

引用

页码：877 / 883

页数：7

共 31 条

[1] Clinical core of the Alzheimer's disease neuroimaging initiative: Progress and plans [J].

Aisen, Paul S. ;

Petersen, Ronald C. ;

Donohue, Michael C. ;

Gamst, Anthony ;

Raman, Rema ;

Thomas, Ronald G. ;

Walter, Sarah ;

Trojanowski, John Q. ;

Shaw, Leslie M. ;

Beckett, Laurel A. ;

Jack, Clifford R., Jr. ;

Jagust, William ;

Toga, Arthur W. ;

Saykin, Andrew J. ;

Morris, John C. ;

Green, Robert C. ;

Weiner, Michael W. .

ALZHEIMERS & DEMENTIA, 2010, 6 (03) :239-246

[2] Screening for Familial APP Mutations in Sporadic Cerebral Amyloid Angiopathy [J].

Biffi, Alessandro ;

Plourde, Anna ;

Shen, Yiping ;

Onofrio, Robert ;

Smith, Eric E. ;

Frosch, Matthew ;

Prada, Claudia M. ;

Gusella, James ;

Greenberg, Steven M. ;

Rosand, Jonathan .

PLOS ONE, 2010, 5 (11)

[3] Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease [J].

Blom, Elin S. ;

Viswanathan, Jayashree ;

Kilander, Lena ;

Helisalmi, Seppo ;

Soininen, Hilkka ;

Lannfelt, Lars ;

Ingelsson, Martin ;

Glaser, Anna ;

Hiltunen, Mikko .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (02) :171-175

[4] Phenotype associated with APP duplication in five families [J].

Cabrejo, Lucie ;

Guyant-Marechal, Lucie ;

Laquerriere, Annie ;

Vercelletto, Martine ;

De la Fourniere, Francois ;

Thomas-Anterion, Catherine ;

Verny, Christophe ;

Letournel, Franck ;

Pasquier, Florence ;

Vital, Anne ;

Checler, Frederic ;

Frebourg, Thierry ;

Campion, Dominique ;

Hannequin, Didier .

BRAIN, 2006, 129 :2966-2976

[5] Preclinical Properties of 18F-AV-45: A PET Agent for Aβ Plaques in the Brain [J].

Choi, Seok Rye ;

Golding, Geoff ;

Zhuang, Zhiping ;

Zhang, Wei ;

Lim, Nathaniel ;

Hefti, Franz ;

Benedum, Tyler E. ;

Kilbourn, Michael R. ;

Skovronsky, Daniel ;

Kung, Hank F. .

JOURNAL OF NUCLEAR MEDICINE, 2009, 50 (11) :1887-1894

[6] Use of Florbetapir-PET for Imaging β-Amyloid Pathology [J].

Clark, Christopher M. ;

Schneider, Julie A. ;

Bedell, Barry J. ;

Beach, Thomas G. ;

Bilker, Warren B. ;

Mintun, Mark A. ;

Pontecorvo, Michael J. ;

Hefti, Franz ;

Carpenter, Alan P. ;

Flitter, Matthew L. ;

Krautkramer, Michael J. ;

Kung, Hank F. ;

Coleman, R. Edward ;

Doraiswamy, P. Murali ;

Fleisher, Adam S. ;

Sabbagh, Marwan N. ;

Sadowsky, Carl H. ;

Reiman, P. Eric M. ;

Zehntner, Simone P. ;

Skovronsky, Daniel M. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2011, 305 (03) :275-283

[7] Improving Interrater Agreement About Brain Microbleeds Development of the Brain Observer MicroBleed Scale (BOMBS) [J].

Cordonnier, Charlotte ;

Potter, Gillian M. ;

Jackson, Caroline A. ;

Doubal, Fergus ;

Keir, Sarah ;

Sudlow, Cathie L. M. ;

Wardlaw, Joanna M. ;

Salman, Rustam Al-Shahi .

STROKE, 2009, 40 (01) :94-99

[8] Spatial Relation Between Microbleeds and Amyloid Deposits in Amyloid Angiopathy [J].

Dierksen, Gregory A. ;

Skehan, Maureen E. ;

Khan, Muhammad A. ;

Jeng, Jed ;

Nandigam, R. N. Kaveer ;

Becker, John A. ;

Kumar, Ashok ;

Neal, Krista L. ;

Betensky, Rebecca A. ;

Frosch, Matthew P. ;

Rosand, Jonathan ;

Johnson, Keith A. ;

Viswanathan, Anand ;

Salat, David H. ;

Greenberg, Steven M. .

ANNALS OF NEUROLOGY, 2010, 68 (04) :545-548

[9] Research criteria for the diagnosis of Alzheimer"s disease: revising the NINCDS-ADRDA criteria [J].

Dubois, Bruno ;

Feldman, Howard H. ;

Jacova, Claudia ;

Dekosky, Steven T. ;

Barberger-Gateau, Pascale ;

Cummings, Jeffrey ;

Delocourte, Andre ;

Galasko, Douglas ;

Gauthier, Serge ;

Jicha, Gregory ;

Meguro, Kenichi ;

O'Brien, John ;

Pasquier, Florence ;

Robert, Philippe ;

Rossor, Martin ;

Solloway, Steven ;

Stern, Yaakov ;

Visser, Pieter J. ;

Scheltens, Philip .

LANCET NEUROLOGY, 2007, 6 (08) :734-746

[10] INTRAFAMILIAL DIVERSITY OF PHENOTYPE ASSOCIATED WITH APP DUPLICATION [J].

Guyant-Marechal, L. ;

Berger, E. ;

Laquerriere, A. ;

Rovelet-Lecrux, A. ;

Viennet, G. ;

Frebourg, T. ;

Rumbach, L. ;

Campion, D. ;

Hannequin, D. .

NEUROLOGY, 2008, 71 (23) :1925-1926

← 1 2 3 4 →