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Young Investigator Awardee Reports Major Advance in NF2 Research


The Children’s Tumor Foundation is pleased to announce that a study led by Dr. Helen Morrison and CTF grant recipient Alexander Schulz has discovered a previously unknown mechanism for the peripheral nerve damage seen in NF2 patients.

NF2 has long been known to cause nerve damage by harming Schwann cells, which wrap around nerves as part of the protective myelin sheath. Schulz and colleagues found evidence that axons, which are long nerve fibers that carry signals from nerve cells, are also harmed. While this finding is based on animal studies, similar changes in axons were seen in nerve tissue taken from two human patients with NF2 and peripheral neuropathy (numbness in the hands or feet).

As reported in the scientific journal Nature Neuroscience, damage to axons may explain the mystery of why some NF2 patients develop peripheral neuropathy, even if they have no tumors affecting these areas.

This work was funded by a 2012 Children’s Tumor Foundation Young Investigator Award to Schulz, a medical student in the laboratory of Helen Morrison in the Leibniz Institute for Age Research in Jena, Germany.

“This report is groundbreaking because it gives us a new target for studying NF2,” explains Annette Bakker, PhD, chief scientific officer at the Children’s Tumor Foundation. “If axons can be damaged as a result of NF2, we need to widen our view to include finding ways to address this damage, instead of being focused only on the Schwann cell changes in NF2.”

In addition, this research may have applications in other neurological diseases that involve peripheral nerve damage, such as diabetic neuropathy and amyotrophic lateral sclerosis (ALS).

For more information, please see Schulz, A, et al. (2013) “The role of merlin isoform 2 in neurofibromatosis type 2–associated polyneuropathy” in the publication Nature Neuroscience.