TY  - JOUR
AU  - Pasternak, Maurice
AU  - Mirza, Saira S
AU  - Luciw, Nicholas
AU  - Mutsaerts, Henri J M M
AU  - Petr, Jan
AU  - Thomas, David
AU  - Cash, David
AU  - Bocchetta, Martina
AU  - Tartaglia, Maria Carmela
AU  - Mitchell, Sara B
AU  - Black, Sandra E
AU  - Freedman, Morris
AU  - Tang-Wai, David
AU  - Rogaeva, Ekaterina
AU  - Russell, Lucy L
AU  - Bouzigues, Arabella
AU  - van Swieten, John C
AU  - Jiskoot, Lize C
AU  - Seelaar, Harro
AU  - Laforce, Robert
AU  - Tiraboschi, Pietro
AU  - Borroni, Barbara
AU  - Galimberti, Daniela
AU  - Rowe, James B
AU  - Graff, Caroline
AU  - Finger, Elizabeth
AU  - Sorbi, Sandro
AU  - de Mendonça, Alexandre
AU  - Butler, Chris
AU  - Gerhard, Alex
AU  - Sanchez-Valle, Raquel
AU  - Moreno, Fermin
AU  - Synofzik, Matthis
AU  - Vandenberghe, Rik
AU  - Ducharme, Simon
AU  - Levin, Johannes
AU  - Otto, Markus
AU  - Santana, Isabel
AU  - Strafella, Antonio P
AU  - MacIntosh, Bradley J
AU  - Rohrer, Jonathan D
AU  - Masellis, Mario
TI  - Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
JO  - Alzheimer's and dementia
VL  - 20
IS  - 5
SN  - 1552-5260
CY  - Hoboken, NJ
PB  - Wiley
M1  - DZNE-2024-00597
SP  - 3525 - 3542
PY  - 2024
AB  - Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers.We investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 42 C9orf72, 70 GRN, and 31 MAPT presymptomatic carriers and 158 non-carrier controls. Linear mixed effects models assessed perfusion up to 5 years after baseline assessment.Perfusion decline was evident in all three presymptomatic groups in global gray matter. Each group also featured its own regional pattern of hypoperfusion over time, with the left thalamus common to all groups. Frontal lobe regions featured lower perfusion in those who symptomatically converted versus asymptomatic carriers past their expected age of disease onset.Cerebral perfusion is a potential biomarker for assessing genetic FTD and its genetic subgroups prior to symptom onset.Gray matter perfusion declines in at-risk genetic frontotemporal dementia (FTD). Regional perfusion decline differs between at-risk genetic FTD subgroups . Hypoperfusion in the left thalamus is common across all presymptomatic groups. Converters exhibit greater right frontal hypoperfusion than non-converters past their expected conversion date. Cerebral hypoperfusion is a potential early biomarker of genetic FTD.
KW  - Humans
KW  - Frontotemporal Dementia: genetics
KW  - Frontotemporal Dementia: physiopathology
KW  - Frontotemporal Dementia: diagnostic imaging
KW  - Female
KW  - Male
KW  - Middle Aged
KW  - Longitudinal Studies
KW  - Magnetic Resonance Imaging
KW  - Cerebrovascular Circulation: physiology
KW  - Cerebrovascular Circulation: genetics
KW  - C9orf72 Protein: genetics
KW  - tau Proteins: genetics
KW  - Gray Matter: diagnostic imaging
KW  - Gray Matter: pathology
KW  - Progranulins: genetics
KW  - Biomarkers
KW  - Disease Progression
KW  - Brain: diagnostic imaging
KW  - Heterozygote
KW  - Mutation
KW  - Aged
KW  - Spin Labels
KW  - Adult
KW  - arterial spin labeling (Other)
KW  - cerebral perfusion (Other)
KW  - frontotemporal dementia (Other)
KW  - presymptomatic biomarker (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:38623902
C2  - pmc:PMC11095434
DO  - DOI:10.1002/alz.13750
UR  - https://pub.dzne.de/record/269683
ER  -