• Clara Domínguez-Vivero, Liwen Wu, Seonjoo Lee, Masood Manoochehri, Sarah Cines, Adam M Brickman, Batool Rizvi, Anthony Chesebro, Yunglin Gazes, Emer Fallon, Timothy Lynch, Judith L Heidebrink, Henry Paulson, Jill S Goldman, Edward Huey, and Stephanie Cosentino.
• Department of Neurology, Columbia University, Cognitive Neuroscience Division of the Taub Institute, G.H. Sergievsky Center, New York, NY, USA.
• J. Alzheimers Dis. 2020 Jan 1; 75 (2): 595-606.

BackgroundFrontotemporal dementia (FTD) is the second most common cause of early-onset neurodegenerative dementia. Several studies have focused on early imaging changes in FTD patients, but once subjects meet full criteria for FTD diagnosis, structural changes are generally widespread.ObjectiveThis study aims to determine the earliest structural brain changes in asymptomatic MAPT MUTATION carriers.MethodsThis is a cross-sectional multicenter study comparing global and regional brain volume and white matter integrity in a group of MAPT mutation preclinical carriers and controls. Participants belong to multiple generations of six families with five MAPT mutations. All participants underwent a medical examination, neuropsychological tests, genetic analysis, and a magnetic resonance scan (3T, scout, T1-weighted image followed by EPI (BOLD), MPRAGE, DTI, FLAIR, and ASL sequences).ResultsVolumes of five cortical and subcortical areas were strongly correlated with mutation status: temporal lobe (left amygdala, left temporal pole), cingulate cortex (left rostral anterior cingulate gyrus, right posterior cingulate), and the lingual gyrus in the occipital lobe. We did not find significant differences in whole brain volume, white matter hyperintensities volume, and white matter integrity using DTI analysis.ConclusionTemporal lobe, cingulate cortex and the lingual gyrus seem to be early targets of the disease and may serve as biomarkers for FTD prior to overt symptom onset.

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