Classification of Charcot-Marie-Tooth disease
| Clinical type | Inheritance | Locus/gene |
|---|---|---|
| AD, autosomal dominant; AR, autosomal recessive; PMP-22, peripheral myelin protein 22; Po, myelin protein zero; EGR2, early growth response 2; Cx32, connexin 32; MTMR2, myotubularin related protein; NDRG1, N-myc downstream regulated gene 1; NF-L, neurofilament-light gene; KIF1Bβ, microtubule motor KIF1Bβ; GDAP1, ganglioside induced differentiation associated protein 1; LMNA, Lamin A/C. | ||
| 1. Demyelinating | ||
| Charcot-Marie-Tooth type 1 autosomal dominant (CMT 1/HMSN I) | ||
| CMT 1A | AD | Duplication 17p11.2-12/PMP-22 |
| 17p11.2-12/point mutation PMP-22 | ||
| CMT 1B | AD | 1q22-q23/point mutation Po |
| CMT 1C | AD | 16p13.1-p12.3 |
| CMT 1D | AD | 10q21-q22/point mutation EGR2 |
| Charcot-Marie-Tooth type 1 X linked (CMT 1X) | ||
| CMT 1X | X linked | Xq13.1/point mutation Cx32 |
| Dejerine-Sottas disease (HMSN III) | ||
| DSD A | AD (AR) | 17p11.2-12/point mutation PMP-22 |
| DSD B | AD (AR) | 1q22-q23/point mutation Po |
| DSD C | AD | 10q21-q22/ point mutation EGR2 |
| DSD D | AD | 8q23 - q24 |
| Congenital hypomyelinating neuropathy (CHN) | ||
| CHN A | AD | 17p11.2-12/point mutation PMP-22 |
| CHN B | AD | 1q22-q23/point mutation Po |
| CHN C | AD (AR) | 10q21-q22/point mutation EGR2 |
| Hereditary neuropathy with liability to pressure palsies (HNPP) | ||
| HNPP A | AD | Deletion 17p11.2/PMP-22 |
| Charcot-Marie-Tooth type 1 autosomal recessive (AR-CMT1) | ||
| AR-CMT1 A (CMT4A) | AR | 8q13 - 21.1/ GDAP1 |
| AR-CMT1 B1 (CMT4B1) | AR | 11q22/MTMR2 |
| AR-CMT1 B2 (CMT4B2) | AR | 11p15 |
| AR-CMT1 C (CMT 4C) | AR | 5q23-q33 |
| AR-CMT1 D (CMT4D/HMSNL) | AR | 8q24/NDRG1 |
| AR-CMT1 E (CCFDN) | AR | 18q |
| AR-CMT1 F (CMT4F) | AR | 19q13.1-13.3/periaxin |
| AR-CMT1 G (HMSNR) | AR | 10q22-q23 |
| 2. Axonal | ||
| Charcot-Marie-Tooth type 2 autosomal dominant (CMT 2/HMSN II) | ||
| CMT 2A | AD | 1p35 – p36/KIF1Bβ |
| CMT 2B | AD | 3q13 – q22 |
| CMT 2C | AD | Unknown |
| CMT 2D | AD | 7p14 |
| CMT 2E | AD | 8p21/NF-L |
| CMT 2F | AD | 7q11-q21 |
| CMT 2 | AD | 1q22-q23/Point mutation Po |
| CMT 2 (HMSNP) | AD | 3q13.1 |
| Charcot-Marie-Tooth type 2 X linked (CMT 2X) | ||
| CMT 2X | X linked | Xq24-q26 |
| Charcot-Marie-Tooth type 2 autosomal recessive (AR-CMT2) | ||
| AR-CMT2 A | AR | 1q21.2-21.3/LMNA |
| AR-CMT2 B | AR | 8q21.3 |
| AR-CMT2 C | AR | 19q13.3 |
| AR-CMT2 D | AR | 8q21/GDAP1 |
| 3. Dominant–intermediate | ||
| DI-CMT | AD | 10q24.1-q25.1 |
| DI-CMT | AD | 19p12-p13 |