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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Brain stem MRI signal abnormalities in CADASIL.

BACKGROUND: We recently showed that the severity of MRI signal abnormalities increases with age in CADASIL, an arteriopathy due to mutations of notch 3 gene on chromosome 19. Previous results also suggest that the various hemispheric subcortical areas have a different vulnerability to ischemia in this disease. The distribution of the lesions at the brain stem level has not yet been reported. CASE DESCRIPTIONS: We reviewed the MRIs of 68 affected patients having signal abnormalities in the hemispheric white matter to assess the distribution and clinical consequences of brain stem signal abnormalities in CADASIL. We found hypersignals on T2-weighted images in the brain stem in 45% of the subjects. The pons was more frequently involved (100%) than the mesencephalon (69%) and the medulla (35%). Hyposignals on T1-weighted images, at the brain stem level, were observed only in two thirds of these subjects. The lack of signal abnormalities reaching the brain stem surface and the absence of cerebellar lesions were noteworthy. CONCLUSIONS: Brain stem signal abnormalities observed in CADASIL are found in regions irrigated only by perforating arteries. These results support parallel observations made for CADASIL-associated signal abnormalities in the cerebral hemispheres and emphasize the importance of the angioarchitecture of the cerebral vasculature to explain why a condition characterized by a systemic vessel wall pathology is manifested only as a brain disease.[1]


  1. Brain stem MRI signal abnormalities in CADASIL. Chabriat, H., Mrissa, R., Levy, C., Vahedi, K., Taillia, H., Iba-Zizen, M.T., Joutel, A., Tournier-Lasserve, E., Bousser, M.G. Stroke (1999) [Pubmed]
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