• Tijn M Schouten, Frank de Vos, Sanneke van Rooden, Bouts Mark J R J MJRJ 1 Department of Radiology Leiden University Medical Center Leiden the Netherlands. , Anna M van Opstal, Rogier A Feis, Gisela M Terwindt, Wermer Marieke J H MJH 2 Department of Neurology Leiden University Medical Center Leiden The Netherlands., Mark A van Buchem, Steven M Greenberg, Mark de Rooij, Rombouts Serge A R B SARB 1 Department of Radiology Leiden University Medical Center Leiden the Netherlands. , and Jeroen van der Grond.
• 1 Department of Radiology Leiden University Medical Center Leiden the Netherlands.
• J Am Heart Assoc. 2019 Feb 5; 8 (3): e011288.

AbstractBackground Cerebral amyloid angiopathy ( CAA ) is a major cause of lobar intracerebral hemorrhage in elderly adults; however, presymptomatic diagnosis of CAA is difficult. Hereditary cerebral hemorrhage with amyloidosis-Dutch type ( HCHWA -D) is a rare autosomal-dominant disease that leads to pathology similar to sporadic CAA . Presymptomatic HCHWA -D mutation carriers provide a unique opportunity to study CAA -related changes before any symptoms have occurred. In this study we investigated early CAA -related alterations in the white matter. Methods and Results We investigated diffusion magnetic resonance imaging ( dMRI ) data for 15 symptomatic and 11 presymptomatic HCHWA -D mutation carriers and 30 noncarrier control participants using 4 different approaches. We looked at (1) the relation between age and global dMRI measures for mutation carriers versus controls, (2) voxel-wise d MRI , (3) independent component-clustered dMRI measures, and (4) structural connectomics between presymptomatic or symptomatic carriers and controls. Fractional anisotropy decreased, and mean diffusivity and peak width of the skeletonized mean diffusivity increased significantly over age for mutation carriers compared with controls. In addition, voxel-wise and independent component-wise fractional anisotropy, and mean diffusivity, and structural connectomics were significantly different between HCHWA -D patients and control participants, mainly in the periventricular frontal and occipital regions and in the occipital lobe. We found no significant differences between presymptomatic carriers and control participants. Conclusions The d MRI technique is sensitive in detecting alterations in symptomatic HCHWA -d carriers but did not show alterations in presymptomatic carriers. This result indicates that d MRI may be less suitable for identifying early white matter changes in CAA .

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