Table 2

Classification of Charcot-Marie-Tooth disease

TypeGene/locusSpecific phenotype
AD, autosomal dominant; AR, autosomal recessive; Dup, duplication; Del, deletion; PMP-22, peripheral myelin protein 22; MPZ- myelin protein zero; LITAF, lipopolysaccharide-induced tumour necrosis factor; EGR2, early growth response 2; GJB1, gap junction protein, beta 1; GDAP1, ganglioside-induced differentiation-associated protein 1; MTMR2, myotubularin-related protein 2; MTMR13, myotubularin-related protein 13; KIAA1985, K1AA1985 protein; NDRG1, N-myc downstream-regulated gene 1; PRX, periaxin; CTDP1, CTD phosphatase, subunit 1; KIF1Bβ, kinesin family member 1B-β; MFN2, mitofusin 2; RAB7, RAS-associated protein RAB7; GARS, glycyl-tRNA synthetase; NEFL, neurofilament, light polypeptide 68 kDa; HSP 27, heat shock 27 kDa protein 1; HSP 22, heat shock 22 kDa protein 8; LMNA, lamin A/C; MED25, mediator of RNA polymerase II, subunit 25; DMN2, dynamin 2; YARS, tyrosyl-tRNA synthetase; SEPT9, septin 9.
Autosomal dominant CMT1 (AD CMT1)
CMT 1ADup 17p (PMP22)Classic CMT1
PMP22 (point mutation)Classic CMT1/DSD/CHN
CMT 1BMPZCMT1/DSD/CHN/CMT2
CMT 1CLITAFClassic CMT1
CMT 1DEGR2Classic CMT1/DSD/CHN
CMT 1NEFLCMT2 but can have slow MCVs in CMT1 range +/− early onset severe disease
Hereditary neuropathy with liability to pressure palsies (HNPP)
HNPPDel 17p (PMP-22)Typical HNPP
PMP-22 (point mutation)Typical HNPP
X linked CMT1 (CMT 1X)
CMT 1XGJB1Males CMT1(+/−patchy MCVs)/females CMT2
Autosomal recessive CMT1 (AR CMT1)
CMT4AGDAP1CMT1 or CMT2 usually early onset and severe/vocal cord and diaphragm paralysis described/rare AD CMT2 families described
CMT4B1MTMR2Severe CMT1/facial/bulbar/focally folded myelin
CMT4B2MTMR13Severe CMT1/glaucoma/focally folded myelin
CMT4CKIAA1985Severe CMT1/scoliosis/cytoplasmic expansions
CMT4D (HMSNL)NDRG1Severe CMT1/gypsy/deafness/tongue atrophy
CMT4EEGR2CMT1/DSD/CHN phenotype
CMT4FPRXCMT 1/more sensory/focally folded myelin
CCFDNCTDP1CMT 1/gypsy/cataracts/dysmorphic features
HMSN Russe10q22-q23CMT1
Autosomal dominant CMT2 (AD CMT2)
CMT 2AKIF1Bβ (?)Classic CMT2
CMT 2AMFN 2Classic CMT2/more progressive/optic atrophy
CMT 2BRAB7CMT2 with predominant sensory involvement and sensory complications
CMT 2C12q23-q24CMT2 with vocal cord and respiratory involvement
CMT 2DGARSCMT2 with predominant hand wasting/weakness or dHMN-V
CMT 2ENEFLCMT2 but can have slow MCVs
CMT1 range +/− early onset severe disease
CMT 2FHSP27Classic CMT2 or dHMN-II
CMT 2G12q12-q13.3Classic CMT2
CMT 2LHSP22Classic CMT2 or dHMN-II
CMT 2MPZCMT 1 or CMT2
CMT 2 (HMSNP)3q13.1CMT2 with proximal involvement
Autosomal recessive CMT 2 (AR CMT2)
ARCMT2ALMNACMT2 proximal involvement and rapid progression described/also causes muscular dystrophy/cardiomyopathy/lipodystrophy
ARCMT2BMED25Typical CMT2
ARCMT2GDAP1CMT1 or CMT2 usually early onset and severe/vocal cord and diaphragm paralysis described/rare AD CMT2 families described
X linked CMT2
CMT 2XXq24-q26CMT2 with deafness/mental retardation
Dominant intermediate CMT (DI-CMT)
DI-CMTA10q24.1-25.1Typical CMT
DI-CMTBDNM2Typical CMT
DI-CMTCYARSTypical CMT
Hereditary neuralgic amytrophy (HNA)
HNASEPT9Recurrent neuralgic amyotrophy