biostudies-literatureUnknown15(1)Grangeon L<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 onAlzheimer's research & therapy93https://www.ebi.ac.uk/biostudies/studies/S-EPMC10173644biostudies-literaturePhenotype and imaging features associated with APP duplications.PMC10173644Hannequin DGodeneche GGuyant-Marechal LLe Ber ILaquerriere AJonveaux TSauvee Mde Paula AMRovelet-Lecrux ACharbonnier CLemaitre MVercelletto MVital ANicolas GWallon DMagnin EBalageas ACBendetowicz DSillaire ARCassinari KZarea ATournier-Lasserve EThomas-Anterion CCretin BMoreaud OQuillard-Muraine MMeyronet DMackowiak MADuyckaerts CRod-Olivieri PRousseau SMalrain CCampion DCNR-MAJ collaboratorsFelician OCartz-Piver LGrangeon LChauvire VDionet EMaltete DPariente JfalsePhenotype and imaging features associated with APP duplications.<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 on2023-01-01T00:00:00Z2023 May2026-05-17T03:11:43.591Z2024-11-20T20:59:54.237ZS-EPMC101736443717014110.1186/s13195-023-01172-2