Cerebrovascular reactivity is a main determinant of white matter hyperintensity progression in CADASIL.
OBJECTIVE
Basal total cerebral blood flow (TCBF) and cerebrovascular reactivity (CVR) are assumed to play an important role in the pathophysiology of small-vessel disease. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a unique monogenetic model to study the pathophysiology of arterial small-vessel disease. The aim of this study was to investigate the role of TCBF and CVR in the progression of MR imaging abnormalities in CADASIL.


METHODS
Basal TCBF was measured in 25 NOTCH3 mutation carriers and 13 control subjects at baseline. CVR after administration of acetazolamide was measured in 14 NOTCH3 mutation carriers and 9 control subjects. Increase in white matter hyperintensities (WMHs), lacunar infarcts, and microbleeds on MR imaging was measured 7 years later.


RESULTS
Lower CVR at baseline was associated with larger increase of WMHs (P = .001) but not with a larger increase of lacunar infarcts or microbleeds. TCBF at baseline was not associated with an increase of MR imaging abnormalities.


CONCLUSIONS
Decreased CVR is a potential predictor of disease progression as indicated by increasing WMHs in CADASIL.
Liem
M K
MK
Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands. m.k.liem@lumc.nl
Lesnik Oberstein
S A J
SA
Haan
J
J
Boom
R v d
Rv
Ferrari
M D
MD
Buchem
M A v
MA
Grond
J v d
Jv
D000328:Adult; D046589:CADASIL / Q000150:complications* / Q000473:pathology*; D002561:Cerebrovascular Disorders / Q000150:complications* / Q000175:diagnosis*; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity