CMT2E

CMT Type 2E – CMT2E is caused by dominant mutations in the neurofilament light protein (NEFL) gene. Mutations in NEFL cause CMT2E but other mutations in the same gene are associated with ALS, suggesting there may be a connection between them. One of the best mouse models of CMT2E, made by Dr. Ron Liem at Columbia University, has been extensively characterized by the CMTA and now represents an important model for therapeutics testing. Stem cells containing CMT2E mutations have been differentiated into motor neurons and used to create a test for therapies that prevent aggregations of neurofilaments seen in CMT2E.