Porencephaly

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.

Nervous system disease

COL4A1 [HSA:1282] [KO:K06237]

PMID:20196853 (description)

Douzenis A, Rizos EN, Papadopoulou A, Papathanasiou M, Lykouras L

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

BMC Psychiatry 10:19 (2010)

PMID:21157337 (description, gene)

Vahedi K, Alamowitch S

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

Curr Opin Neurol 24:63-8 (2011)

PMID:16107487 (description, gene)

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

J Med Genet 43:490-5 (2006)

PMID:15905400 (description, gene)

Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Science 308:1167-71 (2005)