Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

Abstract
Charcot-Marie-Tooth (CMT) disorders are inherited motor and sensory neuropathies with a general prevalence of 1:2500. Although CMT disorders represent a clinically heterogeneous group of neuropathies, their main features include progressive distal muscular atrophy, weakness, and sensory loss in 4 limbs with onset usually around the first and second decades of life. On the basis of nerve conduction studies, CMT disorders have been divided into primary demyelinating CMT1 and primary axonal CMT2 neuropathies. A third intermediate form has also been introduced in clinical practice, CMT-I, which has intermediate values of nerve conduction velocity.1,2