Neurogenetics

CMT type 1A is the most common form of CMT which occurs secondary to duplications of the PMP22 gene. Deletions of the PMP22 gene can lead to hereditary neuropathies with pressure palsies (HNPP). Mutations in GJB1, which encodes the protein connexin32, are associated with the X-linked form of CMT. ABCA1 gene mutations are associated with Tangier’s disease.