Porencephaly

Common Name(s)

Porencephaly

Description for this condition is not yet available.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "Porencephaly" returned 19 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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De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
 

Author(s): Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

Journal: Am. J. Hum. Genet.. 2012 Jan;90(1):86-90.

 

Porencephaly is a neurological disorder characterized by fluid-filled cysts or cavities in the brain that often cause hemiplegia. It has been suggested that porencephalic cavities result from focal cerebral degeneration involving hemorrhages. De novo or inherited heterozygous mutations ...

Last Updated: 16 Jan 2012

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[Schizencephaly versus porencephaly].
 

Author(s): I Pascual-Castroviejo, J Viaño

Journal: Rev Neurol. 2011 May;52(10):623-4.

 

Last Updated: 13 Apr 2011

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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 "Porencephaly" returned 1 free, full-text review articles on human participants. First 3 results:

Porencephaly and psychosis: a case report and review of the literature.
 

Author(s): Athanassios Douzenis, Emmanouil N Rizos, Athanasia Papadopoulou, Matilda Papathanasiou, Lefteris Lykouras

Journal:

 

Malformations of the cerebral cortex are often associated with developmental delay and psychoses. Porencephaly is a rare congenital disorder of central nervous system involving a cyst or a cavity filled with cerebrospinal fluid, in brain's parenchyma.

Last Updated: 29 Mar 2010

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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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: 30 May 2014

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