BACKGROUND: Frontotemporal 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. OBJECTIVE: This study aims to determine the earliest structural brain changes in asymptomatic MAPT MUTATION carriers. METHODS: This 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). RESULTS: Volumes 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. CONCLUSION: Temporal 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.
BACKGROUND: Frontotemporal 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. OBJECTIVE: This study aims to determine the earliest structural brain changes in asymptomatic MAPT MUTATION carriers. METHODS: This 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). RESULTS: Volumes 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. CONCLUSION: Temporal 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.
Authors: Harro Seelaar; David J Irwin; Lucia A A Giannini; Daniel T Ohm; Annemieke J M Rozemuller; Laynie Dratch; EunRan Suh; Vivianna M van Deerlin; John Q Trojanowski; Edward B Lee; John C van Swieten; Murray Grossman Journal: Acta Neuropathol Date: 2022-09-06 Impact factor: 15.887
Authors: Megan S Barker; Masood Manoochehri; Sandra J Rizer; Brian S Appleby; Danielle Brushaber; Sheena I Dev; Katrina L Devick; Bradford C Dickerson; Julie A Fields; Tatiana M Foroud; Leah K Forsberg; Douglas R Galasko; Nupur Ghoshal; Neill R Graff-Radford; Murray Grossman; Hilary W Heuer; Ging-Yuek Hsiung; John Kornak; Irene Litvan; Ian R Mackenzie; Mario F Mendez; Belen Pascual; Katherine P Rankin; Katya Rascovsky; Adam M Staffaroni; Maria Carmela Tartaglia; Sandra Weintraub; Bonnie Wong; Bradley F Boeve; Adam L Boxer; Howard J Rosen; Jill Goldman; Edward D Huey; Stephanie Cosentino Journal: Cortex Date: 2021-03-19 Impact factor: 4.644
Authors: Megan S Barker; Reena T Gottesman; Masood Manoochehri; Silvia Chapman; Brian S Appleby; Danielle Brushaber; Katrina L Devick; Bradford C Dickerson; Kimiko Domoto-Reilly; Julie A Fields; Leah K Forsberg; Douglas R Galasko; Nupur Ghoshal; Jill Goldman; Neill R Graff-Radford; Murray Grossman; Hilary W Heuer; Ging-Yuek Hsiung; David S Knopman; John Kornak; Irene Litvan; Ian R Mackenzie; Joseph C Masdeu; Mario F Mendez; Belen Pascual; Adam M Staffaroni; Maria Carmela Tartaglia; Bradley F Boeve; Adam L Boxer; Howard J Rosen; Katherine P Rankin; Stephanie Cosentino; Katya Rascovsky; Edward D Huey Journal: Brain Date: 2022-04-29 Impact factor: 15.255
Authors: Dominique Cornelius Marterstock; Michael Franz Xaver Knott; Philip Hoelter; Stefan Lang; Timo Oberstein; Johannes Kornhuber; Arnd Doerfler; Manuel A Schmidt Journal: Tomography Date: 2022-01-17
Authors: Stephanie A Chu; Taru M Flagan; Adam M Staffaroni; Lize C Jiskoot; Jersey Deng; Salvatore Spina; Liwen Zhang; Virginia E Sturm; Jennifer S Yokoyama; William W Seeley; Janne M Papma; Dan H Geschwind; Howard J Rosen; Bradley F Boeve; Adam L Boxer; Hilary W Heuer; Leah K Forsberg; Danielle E Brushaber; Murray Grossman; Giovanni Coppola; Bradford C Dickerson; Yvette M Bordelon; Kelley Faber; Howard H Feldman; Julie A Fields; Jamie C Fong; Tatiana Foroud; Ralitza H Gavrilova; Nupur Ghoshal; Neill R Graff-Radford; Ging-Yuek Robin Hsiung; Edward D Huey; David J Irwin; Kejal Kantarci; Daniel I Kaufer; Anna M Karydas; David S Knopman; John Kornak; Joel H Kramer; Walter A Kukull; Maria I Lapid; Irene Litvan; Ian R A Mackenzie; Mario F Mendez; Bruce L Miller; Chiadi U Onyike; Alexander Y Pantelyat; Rosa Rademakers; Eliana Marisa Ramos; Erik D Roberson; Maria Carmela Tartaglia; Nadine A Tatton; Arthur W Toga; Ashley Vetor; Sandra Weintraub; Bonnie Wong; Zbigniew K Wszolek; John C Van Swieten; Suzee E Lee Journal: Ann Clin Transl Neurol Date: 2020-11-28 Impact factor: 5.430