Table 2

Classification of Charcot-Marie-Tooth disease

Clinical typeInheritanceLocus/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 1AADDuplication 17p11.2-12/PMP-22
17p11.2-12/point mutation PMP-22
CMT 1BAD1q22-q23/point mutation Po
CMT 1CAD16p13.1-p12.3
CMT 1DAD10q21-q22/point mutation EGR2
Charcot-Marie-Tooth type 1 X linked (CMT 1X)
CMT 1XX linkedXq13.1/point mutation Cx32
Dejerine-Sottas disease (HMSN III)
DSD AAD (AR)17p11.2-12/point mutation PMP-22
DSD BAD (AR)1q22-q23/point mutation Po
DSD CAD10q21-q22/ point mutation EGR2
DSD DAD8q23 - q24
Congenital hypomyelinating neuropathy (CHN)
CHN AAD17p11.2-12/point mutation PMP-22
CHN BAD1q22-q23/point mutation Po
CHN CAD (AR)10q21-q22/point mutation EGR2
Hereditary neuropathy with liability to pressure palsies (HNPP)
HNPP AADDeletion 17p11.2/PMP-22
Charcot-Marie-Tooth type 1 autosomal recessive (AR-CMT1)
AR-CMT1 A (CMT4A)AR8q13 - 21.1/ GDAP1
AR-CMT1 B1 (CMT4B1)AR11q22/MTMR2
AR-CMT1 B2 (CMT4B2)AR11p15
AR-CMT1 C (CMT 4C)AR5q23-q33
AR-CMT1 F (CMT4F)AR19q13.1-13.3/periaxin
AR-CMT1 G (HMSNR)AR10q22-q23
2. Axonal
Charcot-Marie-Tooth type 2 autosomal dominant (CMT 2/HMSN II)
CMT 2AAD1p35 – p36/KIF1Bβ
CMT 2BAD3q13 – q22
CMT 2CADUnknown
CMT 2DAD7p14
CMT 2FAD7q11-q21
CMT 2AD1q22-q23/Point mutation Po
CMT 2 (HMSNP)AD3q13.1
Charcot-Marie-Tooth type 2 X linked (CMT 2X)
CMT 2XX linkedXq24-q26
Charcot-Marie-Tooth type 2 autosomal recessive (AR-CMT2)
AR-CMT2 AAR1q21.2-21.3/LMNA
AR-CMT2 BAR8q21.3
AR-CMT2 CAR19q13.3
3. Dominant–intermediate