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November 2010
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Landmark Publication Unravels Mysteries of FD

Experts from the Dysautonomia Research Lab at NYU have unraveled one of the great mysteries surrounding how the nervous system works in FD. In the largest study ever conducted on people with FD, the researchers explored the function of the nerve pathways that control blood pressure. Their results, recently published in the journal Neurology, are surprising, and will lead to better treatments and new directions for FD research.

"We now know that the problem with FD is that while the nerves that carry the signals from the brain to control the different organs (blood vessels, heart, gut) do work pretty well, the nerves that carry information from the body organs to the brain do not work properly," says Dr. Horacio Kaufmann, Director of the FD Research Laboratory at NYU. "The dysfunction of these blood pressure sensing nerves (known as baroreflex afferents) has terrible consequences because the brain does not know what occurs in the body but still "commands" it. Sort of like trying to drive a car at high speed in complete darkness. This explains FD crises and why people with FD can find themselves to be at the mercy of their emotions."

Dr. Lucy Norcliffe-Kaufmann, the lead author of the paper, points out, "the results have completely changed the way we understand FD. Now we finally have an explanation for why the blood pressure is high one minute and low the next in FD."

Dr. Felicia Axelrod, Director of the Dysautonomia Center, added "Because the Dysautonomia Research Laboratory is part of the Dysautonomia Center, these findings have already influenced the way that we treat FD and will give rise to new treatment options for the future."

Dr. Norcliffe-Kaufmann adds, "The results will also have an impact on basic science research. As we know now which nerves are dysfunctional, efforts can be focused on improving the function of those specific nerves. As far as we know, FD is the only genetic disease that affects the blood pressure sensing nerves. This study shows that the protein IKAP is directly involved in the development of the blood pressure sensing pathways."

These findings will make the disease attractive to a variety of researchers from different fields. The work has already made a big impact at two national meetings. It was presented at the American Academy of Neurology and the American Autonomic Society. At both meetings it was selected for discussion in the highlights sessions.

Having an explanation for this aspect of this complex disorder is as important as discovering the gene. It has broad implications for treatment, clinical research and basic research.

The Dysautonomia Foundation congratulates Lucy Norcliffe-Kaufmann, PhD, Felicia Axelrod, MD, and Horacio Kaufmann, MD for their work on this study. It demonstrates how the combination of the world's only FD clinical research lab and the United States' only FD treatment center can result in better understanding and improved treatment of FD. The Dysautonomia Foundation is proud to support the Dysautonomia Center and the work of these incredible individuals and their remarkable efforts to help people with FD live better, healthier and longer lives.


More Info About the Article

Afferent baroreflex failure in familial dysautonomia
by Lucy Norcliffe-Kaufmann, PhD, Felicia Axelrod, MD, and Horacio Kaufmann, MD was recently published in Neurology, the journal of the American Academy of Neurology.

Neurology is the most widely read and highly cited peer-reviewed neurology journal in the United States. An abstract of this article is available from the journal's website