Learn About Familial Porencephaly

What is the definition of Familial Porencephaly?

Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).

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What are the causes of Familial Porencephaly?

Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature).

How prevalent is Familial Porencephaly?

Familial porencephaly is a rare condition, although the exact prevalence is unknown. At least eight affected families have been described in the scientific literature.

Is Familial Porencephaly an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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What are the latest Familial Porencephaly Clinical Trials?
Longterm Outcome of Children With Neonatal Intra-Ventricular or Intra-Cranial Hemorrhage (IVH, ICH)

Summary: Intraventricular hemorrhage (IVH) is the most commonly recognized cerebral lesion on ultrasound in extremely preterm infants. Papile classification is commonly used to grade the severity of IVH. Grade III-IV IVH and other lesions noted on ultrasound including periventricular leukomalacia (pvl) porencephaly, and ventriculomegaly are well Documented to be associated with adverse neurodevelopmental o...

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Who are the sources who wrote this article ?

Published Date: September 01, 2011Published By: National Institutes of Health

What are the Latest Advances for Familial Porencephaly?
Novel COL4A2 mutation causing familial malformations of cortical development.
Risk factors and results of hemispherotomy reoperations in children.
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Surgical management of pediatric patients with encephalopathy due to electrical status epilepticus during sleep (ESES).