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Autosomal Dominant Porencephaly Type I

Abstract

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NORD is very grateful to Jeffrey A. Kuller, MD, Professor of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Duke University Medical Center, for assistance in the preparation of this report.

Synonyms of Autosomal Dominant Porencephaly Type I

  • No synonyms found.

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Autosomal dominant porencephaly type I is a rare genetic disorder in which fluid-filled cysts and cavities develop on the surface of the brain. Autosomal dominant porencephaly type I is caused by mutations of the COL4A1 gene. Affected individuals are predisposed to damage to small blood vessels, including the small vessels within the brain. The signs and symptoms of this disorder vary greatly from one individual to another, but may include weakness or paralysis of one side of the body (hemiparesis or hemiplegia), seizures, varying degrees of cognitive impairment, and migraines.

Mutations of the COL4A1 gene also cause at least two other disorders - brain small vessel disease with hemorrhage and HANAC (hereditary angiopathy with neuropathy, aneurysms, and muscle cramps) syndrome. Researchers now know that these three disorders represent a spectrum or continuum of disease with overlapping features.

Autosomal Dominant Porencephaly Type I Resources

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., seizures).

Organizations:

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