Familial Porencephaly

Common Name(s)

Familial Porencephaly

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common ({2:Airaksinen, 1984}; {7:Sensi et al., 1990}). Genetic Heterogeneity of Porencephaly See also POREN2 ({614483}), caused by mutation in the COL4A2 gene ({120090}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Porencephaly" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial Porencephaly" returned 1 free, full-text research articles on human participants. First 3 results:

COL4A2 mutation associated with familial porencephaly and small-vessel disease.
 

Author(s): Elly Verbeek, Marije E C Meuwissen, Frans W Verheijen, Paul P Govaert, Daniel J Licht, Debbie S Kuo, Cathryn J Poulton, Rachel Schot, Maarten H Lequin, Jeroen Dudink, Dicky J Halley, René I F de Coo, Jan C den Hollander, Renske Oegema, Douglas B Gould, Grazia M S Mancini

Journal: Eur. J. Hum. Genet.. 2012 Aug;20(8):844-51.

 

Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum of disorders ascribed to dominant mutations in the gene encoding for type IV collagen alpha-1 (COL4A1). Mice harbouring mutations in either Col4a1 or Col4a2 suffer from porencephaly, hydrocephalus, ...

Last Updated: 19 Jul 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial Porencephaly" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

COL4A1 Gene Related Cerebra-retinal Angiopathy
 

Status: Recruiting

Condition Summary: Cerebra-retinal Angiopathy

 

Last Updated: 12 Nov 2013

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