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

Hereditary neurological disorders
	Alzheimer disease
	Arts syndrome
	Autism
	Autosomal dominant cerebellar ataxia, deafness and narcolepsy
	Autosomal recessive spastic paraplegia type 44
	Brain malformations with urinary tract defects
	Brain small vessel disease with hemorrhage
	Brunner syndrome
	Charcot-Marie-Tooth disease
	Congenital insensitivity to pain with anhidrosis
	Hereditary benign chorea
	Hereditary distal motor neuron neuropathy type 5A
	Hereditary muscle diseases
	Hereditary sensory and autonomic neuropathy type 2A
	Hereditary sensory neuropathy type 1E
	Hypokalemic periodic paralysis 1
	Hypomyelinating Leukodystrophy 2
	Idiopathic basal ganglia calcification 1
	Intellectual disability-severe speech delay-mild dysmorphism syndrome
	Migraine
	Nemaline myopathy 5
	Porencephaly
		Porencephaly 1
			COL4A1
		Porencephaly 2
			COL4A2
	Rett syndrome
	Severe neonatal-onset encephalopathy with microcephaly
	Spastic paraplegia 17 with amyotrophy of hands and feet
	Susceptibility to glioma
	Vascular dementia
	X-linked syndromic mental retardation 13

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) [^]

Update: May 10, 2019