CADASIL

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CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) deserves its abbreviation. It is an underdiagnosed condition (particularily is spontaneous mutation) manifest by multiple cerebral infarct pathology and usually (not exclusively) abnormalities of the Notch 3 [1]receptor. The accumulation of granular osmiophilic material (GOM), containing extracellular domains of the Notch3 peptide associated with degenerating vascular smooth muscle cells in skin biopsy examined under an electron microscope can help suggest a NOTCH3 gene problem [2]. There are so many mutations known, only the commonest are checked for in routine genetic testing for the condition.

External links

  • To increase awareness of CADASIL
  • To provide information and support to CADASIL sufferers, their families, and doctors
  • To co-ordinate research into positive treatments for CADASIL
  • To co-ordinate research into a cure for CADASIL
  • To develop a treatment centre for CADASIL sufferers

References