It was more than ten years ago that Dr. Tally Lerman-Sagie first saw babies with PCCA, a genetic disorder that causes severe mental and physical disabilities and brain atrophy—all before age three. Parents would bring in months-old infants with these unexplained seizures.
Lerman-Sagie tested the babies as fully as she could in the pediatric neurology clinic she heads, just outside of Tel Aviv. At first, the test results would come up normal; only as the afflicted babies grew older would their MRI scans show their brain atrophy. Then, one family had a second child afflicted with the same mysterious symptoms. That made Lerman-Sagie realize she must be dealing with a genetic disease… but knowing that wasn’t much help, either. She didn’t know the gene, so she couldn’t test potential parents for it. She certainly couldn’t cure the disease.
She recalls one couple that had one baby who had died and one living with PCCA, which is short for progressive cerebello-cerebral atrophy. The parents wouldn’t believe the doctor when she told them their living baby’s condition was genetic. She didn’t have a test that could say, Here’s the gene, here’s what’s wrong. All she knew was that the condition showed up in families in such a way that it must be inherited.
“They were very religious Jews and they wanted to have very many children,” Lerman-Sagie says. Here their doctor was telling them that every kid they had was at risk for this devastating condition and there was no way for them to prevent it. The family never returned to Lerman-Sagie’s clinic in the Wolfson Medical Center in Holon, Israel. “It’s very hard when you can’t offer them genetic counseling,” she tells Popular Science.
Now, however, improving DNA technology has helped Lerman-Sagie discover the culprit genes behind PCCA, offering families a chance at prevention.