The condition, Pelizaeus-Merzbacher disease (PMD), named after two German physicians: Dr. Pelizaeus and Dr. Merzbacher, is one in a group of genetic disorders collectively known as leukodystrophies.
That means Pelizaeus-Merzbacher disease, which usually begins during infancy, causes the brain to gradually lose myelin; the fat that surrounds nerves.
As a result, without this protective covering, messages cannot travel down the nerve, which first become impaired, and then stop working altogether - resulting in a range of problems in children including the progressive loss of movement, speech, and sadly, ultimately death which is caused often by pneumonia, choking on fluid that is stuck in the lungs, or inability to breathe due to paralysis.
With no cure or standard course of treatment, prognosis for those with Pelizaeus–Merzbacher disease differs from person to person, according to Pelizaeus-Merzbacher.org
. Those with the most severe form, for example, may not survive past adolescence to those who may survive into the sixth or even seventh decade.
Study offers hope
That's one reason why the the study, published in Nature Medicine
, is so important.
According to the BBC
, researchers at the Max Planck Institute of Experimental Medicine, Department of Neurogenetics, in Germany, found that a high-cholesterol diet could increase production myelin.
They discovered this by performing a trial on mice who had the disease and feeding them a high cholesterol diet. The first tests were on mice when they were six weeks old, after signs of PMD had already emerged.
"This six-week-long cholesterol treatment delayed the decline in motor co-ordination," the scientists said, the BBC reports.
Those fed a normal diet continued to get worse, while those fed a cholesterol-enriched diet stabilized.
Further tests showed that starting the diet early was more beneficial, leading the researchers to conclude that in mice "treatment should begin early in life and continue into adulthood".
The fine print
But as in most studies, there's fine print. First, the study was performed in mice, meaning it is not known if there would be a similar effect in people - or if there would, how early treatment would have to start, the BBC writes.
The people at Pelizaeus-Merzbacher.org say that research about this devastating disease offers hope, raising awareness. "The more people know about PMD, the fewer children will suffer from this devastating disease."