CADASIL
Hereditary stroke disorder caused by NOTCH3 mutations.
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CADASIL is a rare genetic disorder affecting the small blood vessels in the brain.[1] It is the most common form of hereditary stroke disorder and is caused by mutations of the NOTCH3 gene on chromosome 19.[2] The term CADASIL was first coined in 1993.[1]
Quick Facts
- Symptoms
- Migraine headaches
Facts from the source article.
Key facts and history
CADASIL is inherited in an autosomal dominant fashion.[1] Most individuals with CADASIL have a parent with the disorder, but it can be due to a spontaneous de novo mutation.[1] Migraine with aura may be a predominant symptom in some affected individuals, occurring in at least half of CADASIL patients.[1] Many individuals with CADASIL develop psychiatric abnormalities ranging from personality and behavioral changes to severe anxiety and depression.[1]
The 2019 Brain Prize was awarded to Bousser, Tournier-Lasserve, Hugues Chabriat, and Anne Joutel for their work on this disease.[3] Migraine headaches together with transient ischemic attacks or strokes represent the most frequent clinical signs, typically first appearing when patients are between 40 and 50 years old.[4] Among symptomatic individuals, roughly 85% will experience transient ischemic attacks or strokes, making ischemic stroke the most common presentation.[5] Ischemic episodes begin at an average age of about 46 years.[5]
What the research sources say
The same source states that microscopic protein accumulations called granular osmiophilic material (GOM) accumulate in blood vessels of CADASIL patients.[1] It also states that the efficacy of tPA for treatment of acute strokes in CADASIL patients is uncertain, and careful evaluation of prior microbleeds is suggested.[1] The report adds that vasoconstrictors, especially triptans or ergot derivates, are not recommended for CADASIL patients.[1] According to one report, some people with CADASIL never suffer strokes, and it is common for patients to show stroke evidence on MRI scans despite having no history of stroke-like symptoms.[1]
The only ways to confirm a CADASIL diagnosis are through DNA testing of blood samples for NOTCH3 mutations or by finding GOM inclusions in a skin biopsy.[1]
References
- Sencen, "CADASIL". facts only, no text reused. rarediseases.org
- Wikipedia, "CADASIL" (CC BY-SA 4.0), which cites: "Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia", Nature, October 1996, p. 707–10 (original not read by us) en.wikipedia.org
- Wikipedia, "CADASIL" (CC BY-SA 4.0), which cites: "CADASIL History", www.cadasilfoundation.org; Chabriat, "[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)] - Abstract", Journal des Maladies Vasculaires, 1996, p. 277–82; Office, "The Brain Prize 2019: French neuroscientists honoured for outstanding research into small vessel strokes in the brain", FENS.org (original not read by us) en.wikipedia.org
- Wikipedia, "CADASIL" (CC BY-SA 4.0), which cites: "Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", Lancet, October 1995, p. 934–9; "Andrews' Diseases of the Skin: clinical Dermatology", Saunders Elsevier, 2006, p. 545 (we also read that source) en.wikipedia.org
- Wikipedia, "CADASIL" (CC BY-SA 4.0), which cites: Ho, "CADASIL presenting as schizophreniform organic psychosis", General Hospital Psychiatry, 2015, p. 273.e11–273.e13 (original not read by us) en.wikipedia.org
Each numbered sentence above was checked against the source it cites before publication. Sentences citing Wikipedia adapt text from the English Wikipedia article CADASIL (contributors), used under CC BY-SA 4.0; this entry is available under the same licence. Other sources were used for facts only; no text or images are copied from them.
More in Syndromes
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: CADASIL (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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