{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15(1)"],"submitter":["Grangeon L"],"pubmed_abstract":["<h4>Background</h4>APP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications carriers.<h4>Methods</h4>Clinical, radiological, and neuropathological features of 43 APP duplication carriers from 24 French families were retrospectively analyzed, and MRI features and cerebrospinal fluid (CSF) biomarkers were compared to 40 APP-negative CAA controls.<h4>Results</h4>Major neurocognitive disorders were found in 90.2% symptomatic APP duplication carriers, with prominent behavioral impairment in 9.7%. Symptomatic intracerebral hemorrhages were reported in 29.2% and seizures in 51.2%. CSF Aβ42 levels were abnormal in 18/19 patients and 14/19 patients fulfilled MRI radiological criteria for CAA, while on"],"journal":["Alzheimer's research & therapy"],"pagination":["93"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10173644"],"repository":["biostudies-literature"],"pubmed_title":["Phenotype and imaging features associated with APP duplications."],"pmcid":["PMC10173644"],"pubmed_authors":["Hannequin D","Godeneche G","Guyant-Marechal L","Le Ber I","Laquerriere A","Jonveaux T","Sauvee M","de Paula AM","Rovelet-Lecrux A","Charbonnier C","Lemaitre M","Vercelletto M","Vital A","Nicolas G","Wallon D","Magnin E","Balageas AC","Bendetowicz D","Sillaire AR","Cassinari K","Zarea A","Tournier-Lasserve E","Thomas-Anterion C","Cretin B","Moreaud O","Quillard-Muraine M","Meyronet D","Mackowiak MA","Duyckaerts C","Rod-Olivieri P","Rousseau S","Malrain C","Campion D","CNR-MAJ collaborators","Felician O","Cartz-Piver L","Grangeon L","Chauvire V","Dionet E","Maltete D","Pariente J"],"additional_accession":[]},"is_claimable":false,"name":"Phenotype and imaging features associated with APP duplications.","description":"<h4>Background</h4>APP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications carriers.<h4>Methods</h4>Clinical, radiological, and neuropathological features of 43 APP duplication carriers from 24 French families were retrospectively analyzed, and MRI features and cerebrospinal fluid (CSF) biomarkers were compared to 40 APP-negative CAA controls.<h4>Results</h4>Major neurocognitive disorders were found in 90.2% symptomatic APP duplication carriers, with prominent behavioral impairment in 9.7%. Symptomatic intracerebral hemorrhages were reported in 29.2% and seizures in 51.2%. CSF Aβ42 levels were abnormal in 18/19 patients and 14/19 patients fulfilled MRI radiological criteria for CAA, while on","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 May","modification":"2026-05-17T03:11:43.591Z","creation":"2024-11-20T20:59:54.237Z"},"accession":"S-EPMC10173644","cross_references":{"pubmed":["37170141"],"doi":["10.1186/s13195-023-01172-2"]}}