Single Gene Causes of Stroke

Majersik, Jennifer J.

doi:10.1055/s-0037-1603952

Cited by 2 publications

(2 citation statements)

References 98 publications

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“…CADASIL is an inherited cerebrovascular disorder, whose main clinical features are migraine with aura, recurrent subcortical ischemic attacks, strokes, vascular dementia, cognitive impairment, psychiatric disturbances, and apathy [8][9][10][11][12][13][14][15][16]. Due to the rarity of the disease, CADASIL is often overlooked and misdiagnosed; nevertheless, the combined symptomatic and asymptomatic prevalence of CADASIL is estimated at least 10.7 per 100,000 adults [11,12,[17][18][19][20].…”

Section: Clinical Picturementioning

confidence: 99%

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Ungaro¹,

Sprovieri²

2020

Rare Diseases

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease whose key features are recurrent transient ischemic attacks (TIA), strokes, migraine with aura, vascular dementia, and diffuse white matter abnormalities detectable through neuroimaging. The disease results from mutations in the NOTCH3 gene, encoding a transmembrane receptor involved in cellular signaling and fate during embryonic development. Genetic testing is the gold standard for diagnosing this condition, but the syndrome can be suspected clinically based on family history and characteristic findings of white matter changes. Nevertheless, different individual symptom types, onset, and disease severity, even among individuals in the same family, have been increasingly recognized. The molecular mechanisms by which NOTCH3 mutations lead to vascular degeneration remain unclear. Most CADASIL-associated mutations result in either a gain or loss of cysteine residue in one of the 34 EGF-like repeats in the extracellular domain of the Notch3 protein, thus sparing the number of cysteine residues. More than 200 different mutations in the NOTCH3 gene have been reported in CADASIL patients, of which 95% are missense point mutations. Although it has been suggested that some mutations may be associated with a milder or more severe phenotype, so far no clear genotype-phenotype correlation has been found. To date, no disease-modifying treatment is available for this condition.

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Section: Clinical Picturementioning

confidence: 99%

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Ungaro¹,

Sprovieri²

2020

Rare Diseases

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“…27 Hemorrhage risk is lifelong and often has an environmental trigger, such as minor trauma. 28,29 Although there is no specific treatment, diagnosis is useful because patients can be counseled to avoid contact sports and anticoagulation, and mothers of affected fetuses could undergo planned cesarean section to reduce hemorrhage risk related to birth trauma.…”

Section: February 2019mentioning

confidence: 99%