Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Porenzephalie 1

Die Porenzephalie Typ 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im COL4A1-Gen hervorgerufen wird.

Gliederung

Porenzephalie
Porenzephalie 1
COL4A1
Porenzephalie 2

Referenzen:

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.

Sensi A et al. (1990) Familial porencephaly.

[^]
7.

Zonana J et al. (1986) Familial porencephaly and congenital hemiplegia.

[^]
8.

Haar F et al. (1977) Hereditary nonprogressive athetotic hemiplegia: a new syndrome.

[^]
9.

Smit LM et al. (1984) Familial porencephalic white matter disease in two generations.

[^]
10.

Berg RA et al. (1983) Familial porencephaly.

[^]