Winter 2006

MRI Opens Window on Brain Malformations

The increasing use of magnetic resonance imaging (MRI) to view fetal and neonatal brains — along with molecular genetic techniques — is creating a completely new understanding of congenital brain malformations and normal brain development, says UCSF researcher Jim Barkovich, M.D.

"Until about 15 years ago, congenital brain malformations were very poorly understood," Barkovich says. "The only way to study them was if the patient died and an autopsy was agreed to."

The rise of MRI provided a new, noninvasive view of the developing brain, and produced evidence that brain malformations were not as rare as once thought. "I have a book from 20 years ago that says people with malformations are not able to live in society. And yet, we are now seeing that malformations are pretty common, even among people who don't seem to be affected," Barkovich says.

For instance, he says UCSF physicians will sometimes see patients in their 50s who have mild malformations of the brain. "The doctor will say this patient is normal. But if you dig deeper, you will find that maybe he didn't do that well in school."

Ultrasound has long been the standard fetal imaging technology, but there are severe limitations to what sonograms can detect. "People who do ultrasound are good and can see a lot. But you get reverberations off the skull and there is not good contrast between gray and white matter on an ultrasound," Barkovich says.

MR imaging can resolve fairly fine abnormalities that sonograms would never see, he says. With MRI, clinicians can spot abnormal gray matter that is no more than 3 or 4 millimeters in size and can see the corpus callosum directly, while sonographers have to look for indirect signs to see whether the corpus callosum is normal.

MRI, when combined with genetics and molecular biology, can be a powerful tool for understanding why malformations occur. Widespread brain imaging can produce evidence of familial patterns of brain malformations, which can be linked to chromosomal locations or genetic markers. Once gene candidates for the malformation are discovered, their developmental responsibilities can be studied by knocking out the gene in developing animals.

"Imaging and genetics work hand in hand and at UCSF, we have a lot of people involved in imaging, genetics and developmental neurobiology," Barkovich says.

For more information, contact Dr. Jim Barkovich at (415) 353-1668.

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