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Pasternak Maurice, Mirza Saira S, Luciw Nicholas, Mutsaerts Henri J M M, Petr Jan, Thomas David, Cash David, Bocchetta Martina, Tartaglia Maria Carmela, Mitchell Sara B, Black Sandra E, Freedman Morris, Tang-Wai David, Rogaeva Ekaterina, Russell Lucy L, Bouzigues Arabella, van Swieten John C, Jiskoot Lize C, Seelaar Harro, Laforce Robert, Tiraboschi Pietro, Borroni Barbara, Galimberti Daniela, Rowe James B, Graff Caroline, Finger Elizabeth, Sorbi Sandro, de Mendonça Alexandre, Butler Chris, Gerhard Alex, Sanchez-Valle Raquel, Moreno Fermin, Synofzik Matthis, Vandenberghe Rik, Ducharme Simon, Levin Johannes, Otto Markus, Santana Isabel, Strafella Antonio P, MacIntosh Bradley J, Rohrer Jonathan D, Masellis Mario, GENetic Frontotemporal dementia Initiative (GENFI)
Аннотация
METHODS: 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.
RESULTS: 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.
DISCUSSION: Cerebral perfusion is a potential biomarker for assessing genetic FTD and its genetic subgroups prior to symptom onset.
HIGHLIGHTS: 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.