CMT2E is caused by dominant mutations in the neurofilament light protein (NEFL). One result of the mutations is to prevent the neurofilament light proteins from assembling properly, resulting in the formation of aggregates or abnormal filaments. The current research goal is to confirm the significance of these molecular events to the resulting disease pathology.

Dr. Ronald Liem at Columbia University has demonstrated under a microscope that there are neurofilamentous inclusions evident in the CMT2E mutated mouse that are not evident in the normal mouse. In addition, a mouse cohort for CMT2E has been bred at Jackson Laboratories, and early phenotyping results at PsychoGenics with the animals (tests of observable traits or characteristics) show measurable deficits at an early age in the mice.

Additional characterization studies of the 2E mouse are being initiated in Dr. Scherer’s lab. The studies will deeply examine the electrophysiologic and histopathological defects in the mutant mice as they age.