Faculty Opinions recommendation of APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

2006 ◽  
Author(s):  
Riqiang Yan
Keyword(s):  
Alzheimer Disease ◽  
Cerebral Amyloid Angiopathy ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Amyloid Angiopathy ◽  
Cerebral Amyloid

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

2005 ◽  
Vol 38 (1) ◽  
pp. 24-26 ◽  
Author(s):  
Anne Rovelet-Lecrux ◽  
Didier Hannequin ◽  
Gregory Raux ◽  
Nathalie Le Meur ◽  
Annie Laquerrière ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Cerebral Amyloid Angiopathy ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Amyloid Angiopathy ◽  
Cerebral Amyloid

scholarly journals Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication

2021 ◽  
Vol 7 (5) ◽  
pp. e609 ◽  
Author(s):  
Lou Grangeon ◽  
Kévin Cassinari ◽  
Stéphane Rousseau ◽  
Bernard Croisile ◽  
Maïté Formaglio ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Cerebral Amyloid Angiopathy ◽  
Early Onset ◽  
Brain Mri ◽  
Amyloid Β ◽  
Fold Increase ◽  
Comparative Genomic ◽  
Amyloid Angiopathy ◽  
Mrna Levels ◽  
Cerebral Amyloid

Background and ObjectiveTo report a triplication of the amyloid-β precursor protein (APP) locus along with relative messenger RNA (mRNA) expression in a family with autosomal dominant early-onset cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD).MethodsFour copies of the APP gene were identified by quantitative multiplex PCR of short fluorescent fragments, fluorescent in situ hybridization (FISH), and array comparative genomic hybridization. APP mRNA levels were assessed using reverse-transcription–digital droplet PCR in the proband's whole blood and compared with 10 controls and 9 APP duplication carriers.ResultsBeginning at age 39 years, the proband developed severe episodic memory deficits with a CSF biomarker profile typical of AD and multiple lobar microbleeds in the posterior regions on brain MRI. His father had seizures and recurrent cerebral hemorrhage since the age of 37 years. His cerebral biopsy showed abundant perivascular amyloid deposits, leading to a diagnosis of CAA. In the proband, we identified 4 copies of a 506-kb region located on chromosome 21q21.3 and encompassing the whole APP gene without any other gene. FISH suggested that the genotype of the proband was 3 copies/1 copy corresponding to an APP locus triplication, which was consistent with the presence of 2 APP copies in the healthy mother and with the paternal medical history. Analysis of the APP mRNA level showed a 2-fold increase in the proband and a 1.8 fold increase in APP duplication carriers compared with controls.DiscussionIncreased copy number of APP is sufficient to cause AD and CAA, with likely earlier onset in case of triplication compared with duplication.

Down syndrome, Alzheimer disease, and cerebral amyloid angiopathy: The complex triangle of brain amyloidosis

2019 ◽  
Vol 79 (7) ◽  
pp. 716-737 ◽  
Author(s):  
María Carmona‐Iragui ◽  
Laura Videla ◽  
Alberto Lleó ◽  
Juan Fortea
Keyword(s):  
Down Syndrome ◽  
Alzheimer Disease ◽  
Cerebral Amyloid Angiopathy ◽  
Amyloid Angiopathy ◽  
Cerebral Amyloid

scholarly journals Characteristics of Aquaporin Expression Surrounding Senile Plaques and Cerebral Amyloid Angiopathy in Alzheimer Disease

2012 ◽  
Vol 71 (8) ◽  
pp. 750-759 ◽  
Author(s):  
Akihiko Hoshi ◽  
Teiji Yamamoto ◽  
Keiko Shimizu ◽  
Yoshikazu Ugawa ◽  
Masatoyo Nishizawa ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Cerebral Amyloid Angiopathy ◽  
Senile Plaques ◽  
Amyloid Angiopathy ◽  
Cerebral Amyloid

P2-168: Screening for Serum Biomarkers for Cerebral Amyloid Angiopathy and Alzheimer Disease: Results from a Discovery Assay of 65 Cytokines

2016 ◽  
Vol 12 ◽  
pp. P680-P680
Author(s):  
Janka Hegedus ◽  
Ana Alvarez-Veronesi ◽  
Angela Zwiers ◽  
Anna Charlton ◽  
Ramnik Sekhon ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Cerebral Amyloid Angiopathy ◽  
Serum Biomarkers ◽  
Amyloid Angiopathy ◽  
Cerebral Amyloid

Vessels Sing Their ARIAs: The Role of Vascular Amyloid in the Age of Aducanumab

Stroke ◽  
2021 ◽  
Author(s):  
Lukas Sveikata ◽  
Andreas Charidimou ◽  
Anand Viswanathan
Keyword(s):  
Clinical Trials ◽  
Alzheimer Disease ◽  
Cerebral Amyloid Angiopathy ◽  
Amyloid Β ◽  
High Rate ◽  
Amyloid Angiopathy ◽  
Cerebrovascular Pathology ◽  
Cerebral Amyloid

We review the implications of the recently approved aducanumab amyloid-β immunotherapy for treating Alzheimer disease with comorbid cerebral amyloid angiopathy. In clinical trials, amyloid-β immunotherapy has been associated with a high rate of amyloid-related imaging abnormalities, potentially driven by coexisting cerebral amyloid angiopathy. Therefore, immunotherapy’s efficacy in patients may be modified by coexisting cerebrovascular pathology. We discuss the contributions of cerebral amyloid angiopathy on the development of amyloid-related imaging abnormalities and propose strategies to identify cerebral amyloid angiopathy in patients considered for immunotherapy.

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