title: Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI.
abstract: OBJECTIVE
  To assess functional changes measured by cerebral blood flow (CBF) in the presymptomatic stage of frontotemporal dementia linked to chromosome 3 (FTD-3) caused by a truncating mutation in CHMP2B.
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  A memory clinic and tertiary referrals centre for dementia and inherited neurodegenerative disorders.
  
  
  METHODS
  The authors included 11 presymptomatic CHMP2B mutation carriers and seven first-degree-related family non-carriers. Participants were MRI scanned twice with an interval of 15 months.
  
  
  METHODS
  Local functional changes in brain tissue perfusion were measured as CBF with two different MR techniques, gradient echo (GRE) and spin echo (SE), focusing on CBF in all cerebral vessels (GRE) and cerebral capillaries (SE), 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 SE, 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 CHMP2B mutation carriers in occipital-and parietal lobes. Comparing SE with GRE, data indicate that FTD-3 vascular pathology might primarily affect brain capillaries.
authors.affiliation: Center of Functionally Integrative Neuroscience, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Line
authors.initials: L
authors.lastname: Lunau
authors.forename: Kim
authors.initials: K
authors.lastname: Mouridsen
authors.forename: Anders
authors.initials: A
authors.lastname: Rodell
authors.forename: Leif
authors.initials: L
authors.lastname: Ostergaard
authors.forename: Jørgen Erik
authors.initials: JE
authors.lastname: Nielsen
authors.forename: Adrian
authors.initials: A
authors.lastname: Isaacs
authors.forename: Peter
authors.initials: P
authors.lastname: Johannsen