HNPP

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.

Other Grants

Lindsay M. De Biase, Ph.D., University of California Los Angeles
The role of microglial lysosomes in selective neuronal vulnerability
Synapses, the sites of signaling between neurons in the brain, play essential roles in learning, memory, and the health of neurons themselves. An enduring mystery is why some neurons are…
How the nervous system constructs internal models of the external world
As animals navigate their environments, they construct internal models of the external sensory world and use these models to guide their behavior. This ability to incorporate ongoing sensory stimuli into…
Xiaojing Gao, Ph.D., Stanford University
When Neural Circuits Meet Molecular Circuits: Quantitative Genetic Manipulation with Single-cell Consistency
Cells are the building blocks of our bodies. We get sick when the cells “misbehave”. The way modern gene therapies work is to introduce genes, fragments of DNA molecules that…
Rafiq Huda, Ph.D., Rutgers University
Conducting the orchestra of movement—functional role of striatal astrocytes in health and disease
Movement requires coordinated activity across a large brain-wide network. The striatum is a particularly important part of this circuit; it integrates motor-related information from many distinct brain regions to regulate…