Genomes and Genes


Experts and Doctors on cadasil in Leiden, South Holland, Netherlands


Locale: Leiden, South Holland, Netherlands
Topic: cadasil

Top Publications

  1. Liem M, Lesnik Oberstein S, Haan J, van der Neut I, Ferrari M, van Buchem M, et al. MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study. Neurology. 2009;72:143-8 pubmed publisher
    ..Increase in lacunar infarcts, microbleeds, and ventricular volume, but not white matter lesions or atrophy, are associated with cognitive decline in the process of CADASIL in younger-aged, mildly affected patients with CADASIL. ..
  2. Rutten J, Boon E, Liem M, Dauwerse J, Pont M, Vollebregt E, et al. Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. Hum Mutat. 2013;34:1486-9 pubmed publisher
    ..The deletion was inherited from his father, who did not have the skin biopsy abnormalities seen in CADASIL patients. These individuals with rare NOTCH3 mutations indicate that hypomorphic NOTCH3 alleles do not cause CADASIL. ..
  3. Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti M, Duering M, et al. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Med. 2017;15:41 pubmed publisher
    ..We conclude with some suggestions that may help in the clinical practice and management of these patients. ..