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 subtype | Inflammatory Neuropathy Subtype | Participants (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 |
|---|---|---|---|---|---|---|
| CMT1A | GBS (AIDP)/SAIDP | 7 | 3/6 | 4/5 | 2/2 | 6/7 |
| CMT1A | CIDP | 23 | 6/16 | 7/10 | 6/9 | 10/21 |
| HNPP | AIDP | 2 | 0/2 | 1/1 | 0/1 | 0/0 |
| HNPP | CIDP | 5 | 1/5 | 2/3 | 0/2 | 3/4 |
| CMTX1 | CIDP(10), MMN(1) | 11 | 9/11 | 2/3 | 1/2 | 4/11 |
| CMT due to MPZ mutations | AIDP | 1 | 0/1 | – | – | – |
| CMT due to MPZ mutations | CIDP | 6 | 1/2 | 2/2 | 0/2 | 2/2 |
| HSAN I | CIDP | 1 | 1/1 | 1/1 | 0/1 | 1/1 |
| CMT 4C | CIDP | 1 | 1/1 | 1/1 | – | 1/1 |
| CMT 4J | CIDP | 5 | 1/4 | – | 0/4 | 1/3 |
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.