A Study of Provocation and Treatment of HNPP
2008 Seed Grant
Raymond P. Roos, M.D.
University of Chicago

Charcot-Marie Tooth (CMT) comprises a group of inherited peripheral neuropathies. One form
of CMT called hereditary liability to pressure palsies (HNPP) is manifest by recurrent episodes
of traumatic or compressive peripheral neuropathies. HNPP is caused by a deletion of a myelin
gene called PMP-22. It is known that vitamin C decreases the expression of PMP-22 and
progesterone increases its expression. The thrust of this application is to investigate whether
vitamin C ingestion can influence (and worsen) HNPP clinical disease and whether
progesterone can be used as a treatment of HNPP. The study will test the effect of vitamin C
and progesterone treatment on the clinical and pathological disease of an HNPP mouse.

There is presently no treatment of any form of CMT. The findings of this proposal may have
important implications regarding our understanding and treatment of HNPP. As a result of this
study, HNPP patients may be cautioned about excess vitamin C ingestion. In addition, the
findings of the present study could lead to a clinical trial with progesterone in HNPP patients.

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