Porencephaly
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.
Systematic
References:
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) [^] |