Molecular and Cellular Neuroscience Commons^™

Precision Gene Therapy For Charcot-Marie-Tooth Disease: From Identifying Genetic Modifiers To Developing Allele-Specific Therapies, Kathryn H. Morelli Ph.D.

Electronic Theses and Dissertations

Charcot-Marie-Tooth Disease (CMT) is a clinically and genetically heterogeneous collection of inherited peripheral neuropathies generally characterized by progressive muscle atrophy, weakness, and loss of sensation in the distal extremities. This inherited disorder, for which there is currently no curative treatment, is the most common inherited disease of the peripheral nervous system, affecting 1:2,500 individuals worldwide.

Clinically, CMT is broadly divided into demyelinating (type 1) and axonal (type 2) forms. Although the clinical presentation can vary greatly in severity and progression within individual patients. Genetically, over 1,000 mutations in over 80 loci in the human genome have been linked to specific …