Table 1

Clinical reports of associations, mimics and misdiagnoses of genetically confirmed cases of Charcot-Marie-Tooth disease, per subtype, with inflammatory neuropathy (literature 1966—December 2015)

CMT subtypeInflammatory Neuropathy SubtypeParticipants (n)Frequency of electrophysiological abnormalities suggestive of inflammatory cause (heterogeneous slowing, conduction block, temporal dispersion outside entrapment sites)Frequency of elevated CSF protein (as defined by authors with reference to local normal values)Frequency of inflammatory features on biopsy (presence of described inflammatory cells)Rate of response to immune therapy
CMT1AGBS (AIDP)/SAIDP73/64/52/26/7
CMTX1CIDP(10), MMN(1)119/112/31/24/11
CMT due to MPZ mutationsAIDP10/1
CMT due to MPZ mutationsCIDP61/22/20/22/2
HSAN ICIDP11/11/10/11/1
CMT 4CCIDP11/11/11/1
CMT 4JCIDP51/40/41/3
  • N.B. denominators in columns 3–6 relate to actual numbers tested for the investigation considered.

  • AIDP, acute inflammatory demyelinating polyneuropathy; CIDP, chronic inflammatory demyelinating polyneuropathy; CMT, Charcot-Marie-Tooth disease; GBS, Guillain-Barré Syndrome; HNPP, hereditary neuropathy with liability to pressure palsies; HSAN, Hereditary Sensory and Autonomic Neuropathy; MMN, multifocal motor neuropathy; MPZ, Myelin Protein Zero; SAIDP, subacute inflammatory demyelinating polyneuropathy.