J Stroke.  2021 Jan;23(1):132-134. 10.5853/jos.2020.04112.

Eighteen-Year Disease Progression and Survival in CADASIL

Affiliations
  • 1Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
  • 2Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands
  • 3Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands
  • 4Institute of Psychology, Health, Medical and Neuropsychology Unit, Leiden University, Leiden, the Netherlands
  • 5Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands
  • 6Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands


Figure

  • Figure 1. Magnetic resonance fluid-attenuated inversion recovery (FLAIR) images of two individuals of same age with a NOTCH3 variant in in epidermal growth-factor repeat 7–34: (A) clinically stable versus (B) progressive 18-year course.


Reference

References

1. Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, et al. The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant. Genet Med. 2019; 21:676–682.
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2. Adib-Samii P, Brice G, Martin RJ, Markus HS. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke. 2010; 41:630–634.
3. van den Boom R, Lesnik Oberstein SA, Ferrari MD, Haan J, van Buchem MA. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages. 3rd-6th decades. Radiology. 2003; 229:683–690.
4. Jouvent E, Duchesnay E, Hadj-Selem F, De Guio F, Mangin JF, Hervé D, et al. Prediction of 3-year clinical course in CADASIL. Neurology. 2016; 87:1787–1795.
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