Novel therapeutic strategies and towards a disease severity marker in a model of Charcot-Marie-Tooth disease 1A (CMT1A)

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy that is associated with a partial duplication of human chromosome 17 (CMT subtype 1A). Previously, we generated a transgenic rat model ('CMT rat') of CMT1A by overexpressing the peripheral myelin protein of 22 KDa (PMP22), the responsible disease gene. We used the CMT rat to explore novel therapeutic options in CMT1A. In a proof-of-principle study we identified the progesterone receptor of myelinating Schwann cells as a possible pharmacological target in CMT1A. To more closely mimik the clincial situation of CMT1A patients, we now extended…