SMA Presentation by Dr. Kenneth Fischbeck

On September 21, 2005, FightSMA joined other non-profit SMA organizations, SMA investigators, and the SMA Project Steering Committee in Washington, D.C. The presentation by Dr. Kenneth Fischbeck of NIH/NINDS on SMN2 Upregulation was particularly insightful.

Explanation of Slide #7:

The map is to illustrate an analogy explaining why motor neurons may be particularly vulnerable to SMN deficiency. Motor neurons have very long axons. If a motor neuron were the size of a meeting room (about 20 ft across), then the axon would be 1-2 ft in diameter and have a length of up to 150 miles! That's the distance from Washington, DC, to North Wales, Pennsylvania (where I currently am on sabbatical), as shown on the map. Because motor neurons have such long axons, they are more dependent on SMN, since SMN likely is needed for the transport of messenger RNA along axons.

Dr. Fischbeck received A.B. and A.M. degrees from Harvard University and an M.D. degree from Johns Hopkins. After a medical internship at Case Western Reserve University and a neurology residency at the University of California in San Francisco, he did postdoctoral research on muscular dystrophy at the University of Pennsylvania. In 1982 he joined the faculty in the Neurology Department at the University of Pennsylvania Medical School. In 1998 he came to the NINDS as Chief of the newly created Neurogenetics Branch. He received the Cotzias Award from the American Academy of Neurology and was elected to the Institute of Medicine of the National Academy of Sciences. His laboratory is studying the mechanisms of hereditary neurological and neuromuscular disorders, particularly the polyglutamine expansion neurodegenerative diseases.

You can download the entire presentation made by the Steering Committee Chair.