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Role of COL4A1 in small-vessel disease and hemorrhagic stroke

Article Abstract:

Small-vessel diseases of the brain underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. A mutation in the mouse Col4A1 gene, encoding procollagen type IV alpha1, predisposes both newborn and adult mice to intracerebral hemorrhage, and a COL4A1 mutation in a human family with small-vessel disease is identified that might cause a spectrum of cerebrovascular phenotypes.

Author: Sundberg, John P., Tournier-Lasserve, Elisabeth, Gould, Douglas B., Phalan, Campbell, Mil, Saskia E. van, Vahedi, Katoyoun, Massin, Pascale, Bousser, Marie Germaine, Huetink, Peter, Miner, Jeffery H., John, Simon W.M.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2006
United States, Science & research, Research, Causes of, Stroke (Disease), Stroke, Membrane proteins

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Hemiplegic migraine -- downstream of a single-base change

Article Abstract:

Studies of hemiplegic migraine show that people with the same gene mutation can have very different symptoms. This type of migraine is caused by a mutation in the calcium channel gene CACNA1A. The symptom variability illustrates the effect of environment and development on the human brain.

Author: Hoffman, Eric P.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2001
Editorial, Abnormalities, Calcium channels

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The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

Article Abstract:

Nine different gene mutations are responsible for causing familial hemiplegic migraine, which could account for the variety of symptoms. This type of migraine has a clear hereditary basis and usually causes some form of reversible paralysis during attacks.

Author: Vicaut, Eric, Ducros, Anne, Denier, Christian, Joutel, Anne, Cecillon, Michaelle, Lescoat, Christelle, Vahedi, Katayoun, Darcel, Francoise, Bousser, Marie-Germaine, Tournier-Lasserve, Elisabeth
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2001
Familial diseases

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Subjects list: Genetic aspects, Migraine
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