Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

From Libre Pathology
(Redirected from CADASIL)
Jump to navigation Jump to search

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, abbreviated CADASIL, is a rare genetic disorder that predisposes to cerebral infarcts and may explain a stroke in a young individual.


  • Autosomal dominant disorder - as the name implies.[1]
  • Causes strokes in 40-50 year-old.
  • Cerebral microbleeds - common.
  • Characteristic MRI findings - present in asymptomatic individuals with mutation.
  • Increased risk of myocardial infarction.[3]


  • There is also an autosomal recessive form - CARASIL.[4]


  • Mutation of Notch 3 gene.[5]
    • Diagnosis: proven Notch 3 mutation.



  • +/-Subcortical infarcts.
    • Patches of (non-myelinated) tissue within the white matter deep to the cortex with abundant macrophages.
  • Blood vessels typically have a basophilic granularity.[6]


  • Notch 3: smooth muscle and pericytes punctate +ve.[3]


  • No cortical involvement -- this is unlike multiple sclerosis.


Skin biopsy diagnosis

  • Can be diagnosed on a skin biopsy.[7]

Electron microscopy

  • Granular osmiophilic material (GOM).

See also


  1. Tikka, S.; Mykkänen, K.; Ruchoux, MM.; Bergholm, R.; Junna, M.; Pöyhönen, M.; Yki-Järvinen, H.; Joutel, A. et al. (Apr 2009). "Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.". Brain 132 (Pt 4): 933-9. doi:10.1093/brain/awn364. PMID 19174371.
  2. Choi, JC.; Kang, SY.; Kang, JH.; Park, JK. (Dec 2006). "Intracerebral hemorrhages in CADASIL.". Neurology 67 (11): 2042-4. doi:10.1212/01.wnl.0000246601.70918.06. PMID 17135568.
  3. 3.0 3.1 Lesnik Oberstein SA, Jukema JW, Van Duinen SG, et al. (July 2003). "Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)". Medicine (Baltimore) 82 (4): 251–6. doi:10.1097/01.md.0000085054.63483.40. PMID 12861102.
  4. Fukutake, T.. "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.". J Stroke Cerebrovasc Dis 20 (2): 85-93. doi:10.1016/j.jstrokecerebrovasdis.2010.11.008. PMID 21215656.
  5. Kalaria, RN.; Viitanen, M.; Kalimo, H.; Dichgans, M.; Tabira, T. (Nov 2004). "The pathogenesis of CADASIL: an update.". J Neurol Sci 226 (1-2): 35-9. doi:10.1016/j.jns.2004.09.008. PMID 15537516.
  6. Kleinschmidt-DeMasters BK, Prayson RA (November 2006). "An algorithmic approach to the brain biopsy--part I". Arch. Pathol. Lab. Med. 130 (11): 1630–8. PMID 17076524.
  7. Joutel A, Favrole P, Labauge P, et al. (December 2001). "Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis". Lancet 358 (9298): 2049–51. doi:10.1016/S0140-6736(01)07142-2. PMID 11755616.