Porencephaly

Definition:

Porencephaly is a rare disease of central nervous system characterized by the existence of degenerative cavities filled with cerebrospinal fluid in the brain. It is probably caused by perinatal intracerebral hemorrhages.

References:

[1]. Athanassios Douzenis, et al. Porencephaly and psychosis: a case report and review of the literature. BMC Psychiatry. 2010 Mar 2;10:19. [Content Brief]

[2]. Douglas B Gould, et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005 May 20;308(5725):1167-71. [Content Brief]

[3]. G Breedveld, et al. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2006 Jun;43(6):490-5. [Content Brief]

[4]. Katayoun Vahedi, et al. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol. 2011 Feb;24(1):63-8. [Content Brief]

[5]. Yuriko Yoneda, et al. De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. Am J Hum Genet. 2012 Jan 13;90(1):86-90. [Content Brief]

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