Porencephaly is characterized by cavities in the brain. Those cavities may communicate with the ventricular systemor cause indentations in the brain surface. Acquired and inherited forms can be distinguished.
1. |
Gould DB et al. (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. |
2. |
Vilain C et al. (2002) Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. |
3. |
Aguglia U et al. (2004) Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. |
4. |
van der Knaap MS et al. (2006) Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. |
5. |
de Vries LS et al. (2009) COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. |
6. |
Yoneda Y et al. (2012) De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. |
7. |
Sensi A et al. (1990) Familial porencephaly. |
8. |
Zonana J et al. (1986) Familial porencephaly and congenital hemiplegia. |
9. |
Haar F et al. (1977) Hereditary nonprogressive athetotic hemiplegia: a new syndrome. |
10. |
Smit LM et al. (1984) Familial porencephalic white matter disease in two generations. |
11. |
Berg RA et al. (1983) Familial porencephaly. |
12. |
Bönnemann CG et al. (1996) Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity. |
13. |
OMIM.ORG article Omim 601322 |
14. |
Orphanet article Orphanet ID 2940 |
15. |
Wikipedia article Wikipedia EN (Porencephaly) |