CADASIL

CADASIL
Other namesCADASIL syndrome
Brain MRI from patients with CADASIL showing multiple lesions.
SpecialtyNeurology, cardiology, medical genetics Edit this on Wikidata
SymptomsMigraine headaches

CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the NOTCH3 gene on chromosome 19.[1] The disease belongs to a family of disorders called the leukodystrophies. The most common clinical manifestations are migraine headaches and transient ischemic attacks or strokes, which usually occur between 40 and 50 years of age, although MRI is able to detect signs of the disease years prior to clinical manifestation of disease.[2][3]

The condition was identified and named by French researchers Marie-Germaine Bousser and Elisabeth Tournier-Lasserve in the 1990s.[4][5] Together with two other researchers, Hugues Chabriat and Anne Joutel, they received the 2019 Brain Prize for their research into the condition.[6]

  1. ^ Joutel A, Corpechot C, Ducros A, et al. (October 1996). "Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia". Nature. 383 (6602): 707–10. Bibcode:1996Natur.383..707J. doi:10.1038/383707a0. PMID 8878478. S2CID 4351873.
  2. ^ Chabriat H, Vahedi K, Iba-Zizen MT, et al. (October 1995). "Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy". Lancet. 346 (8980): 934–9. doi:10.1016/s0140-6736(95)91557-5. PMID 7564728. S2CID 44289660.
  3. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 545. ISBN 978-0-7216-2921-6.
  4. ^ "CADASIL History". www.cadasilfoundation.org. Archived from the original on 2021-05-15. Retrieved 2018-03-03.
  5. ^ Chabriat, H.; Joutel, A.; Vahedi, K.; Iba-Zizen, M. T.; Tournier-Lasserve, E.; Bousser, M. G. (1996). "[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)] - Abstract". Journal des Maladies Vasculaires. 21 (5): 277–82. PMID 9026542.
  6. ^ Office, FENS. "The Brain Prize 2019: French neuroscientists honoured for outstanding research into small vessel strokes in the brain". FENS.org. Archived from the original on 2021-05-15. Retrieved 2021-03-04.