A nonsense mutation in the X-linked PIGA gene, which encodes another subunit of this enzyme, was recently reported to cause a lethal disorder characterized by multiple congenital abnormalities, structural brain malformations, joint contractures and neonatal seizures with a burst-suppression EEG (35).
The occurrence of brain malformations of similar type in multiple lambs is not commonly documented in sheep flocks.
As underlying causes they found 4 patients with an obstructive hydrocephalus, two patients with a Chiari malformation type I, one patient with a subdural hematoma, one with multiple brain metastases and one with an acute sphenoid sinusitis [3].
Nevertheless, the study offers a novel way of studying brain development, and of investigating lissencephaly (or "smooth brain") and other neurological conditions that cause brain malformations.
Brain malformations are rare, making it hard for researchers like Dr. Walsh, who are trying to pinpoint the genes responsible for them, to find enough cases to study.
Is it a matter of multiple brain processes happening together?
He had a fractured skull and multiple brain hemorrhages.
Accordingly, human GPR56 mutations cause myelination defects and brain malformations.
Brain magnetic resonance imaging (MRI) revealed multiple brain metastases.
Amy lives in Encinitas, CA, and is a fierce advocate for her two boys who both suffer from brain malformations.
