OBJECTIVES: To assess functional changes measured by cerebral blood flow (CBF) in the presymptomatic stage of @entity4943 linked to chromosome 3 ( @entity4943 -3) caused by a truncating mutation in @entity13315 . DESIGN: Case-control study. SETTING: A memory clinic and tertiary referrals centre for @entity303 and @entity14827 . @entity1 : The authors included 11 presymptomatic @entity13315 mutation carriers and seven first-degree-related family non-carriers. @entity1 were MRI scanned twice with an interval of 15 months. PRIMARY AND SECONDARY OUTCOME MEASURES: Local functional changes in brain tissue perfusion were measured as CBF with two different MR techniques, gradient echo (GRE) and @entity9468 ( @entity9468 ), focusing on CBF in all cerebral vessels (GRE) and cerebral capillaries ( @entity9468 ), respectively. As planned, data analysis included co-registration of perfusion images to structural T1 images. Perfusion data were then extracted from seven regions-of-interest, normalised to white matter and statistically compared between carriers and non-carriers. RESULTS: For @entity9468 , contrasts between carriers and non-carriers showed significant differences in temporal, occipital and parietal lobes and in hippocampus. There was no evidence of changes from baseline to follow-up. For GRE, there were no significant differences between carriers and non-carriers. CONCLUSIONS: Significantly decreased CBF was found in presymptomatic @entity13315 mutation carriers in @entity1625 . Comparing @entity9468 with GRE, data indicate that @entity4943 -3 vascular pathology might primarily affect brain capillaries.

Presymptomatic cerebral blood flow changes in @entity13315 mutation carriers of XXXX ( @entity4943 -3), measured with MRI.

@entity1 :: ('9606', 'Species') :: ['Participants', 'PARTICIPANTS'] @entity1625 :: ('MESH:D004828', 'Disease') :: ['occipital-and parietal lobes'] @entity303 :: ('MESH:D003704', 'Disease') :: ['dementia'] @entity4943 :: ('MESH:D057180', 'Disease') :: ['FTD', 'frontotemporal dementia'] @entity9468 :: ('MESH:D014717', 'Disease') :: ['SE', 'spin echo'] @entity13315 :: ('25978', 'Gene') :: ['CHMP2B'] @entity14827 :: ('MESH:D020271', 'Disease') :: ['inherited neurodegenerative disorders']
@entity303 :: (MESH:D003704,Disease) :: ['familial frontotemporal dementia']
