Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

Vilain C et al. (2002) Neuroimaging fails to identify asymptomatic carriers of familial porencephaly.

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3.

Aguglia U et al. (2004) Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.

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4.

van der Knaap MS et al. (2006) Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

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5.

de Vries LS et al. (2009) COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

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6.

Yoneda Y et al. (2012) De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

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7.

Sensi A et al. (1990) Familial porencephaly.

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8.

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

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9.

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

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10.

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

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11.

Berg RA et al. (1983) Familial porencephaly.

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12.

Bönnemann CG et al. (1996) Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity.

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Update: Sept. 26, 2018