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Chapter 11: Charcot–Marie–Tooth Disease and Related Disorders

INTRODUCTION

Hereditary neuropathies may account for as many as 50% of previously undiagnosed peripheral neuropathies referred to large neuromuscular centers. Charcot–Marie–Tooth (CMT) disease is the most common type of hereditary neuropathy, but, rather than one disease, CMT is a syndrome of several genetically distinct disorders (Table 11-1). In this chapter, we discuss CMT and related neuropathies. In the subsequent chapters, we will review other less common hereditary neuropathies (Chapters 12, 16, and 30).

TABLE 11-1.CLASSIFICATION OF CHARCOT–MARIE–TOOTH DISEASE AND RELATED NEUROPATHIES
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TABLE 11-1.CLASSIFICATION OF CHARCOT–MARIE–TOOTH DISEASE AND RELATED NEUROPATHIES
Name Inheritance Gene Location Gene
CMT1
 CMT1A AD 17p11.2 PMP22 (usually duplication of gene)
 CMT1B AD 1q21–23 MPZ
 CMT1C AD 16p13.1–p12.3 LITAF
 CMT1D AD 10q21.1–22.1 ERG2
 CMT1E (with deafness) AD 17p11.2 Point mutations in PMP22
 CMT1F AD 8p13–21 NEFL/NFL
 CMT1G

AD

X-linked dominant

14q32.33

Xq13

IFN2

GJB1
 CMT1X
 HNPP AD 17p11.2 PMP22
1q21–23 MPZ
CMT2
 CMT2A1 AD 1p36.2 KIF1B
 CMT2A2 (allelic to HMSN VI with optic atrophy) AD 1p36.2 MFN2
 CMT2B AD 3q13–q22 RAB7
 CMT2B1 (allelic to LGMD1B) AR 1q21.2 LMNA
 CMT2B2 AD 19q13 MED25
 CMT2C (with vocal cord and diaphragm paralysis) AD 12q23–24 TRPV4
 CMT2D (allelic to distal SMA5) AD 7p14 GARS
 CMT2E (allelic to CMT1F) AD 8p21 NEFL
 CMT2F AD 7q11–q21 HSPB1
 CMT2G AD 12q12–q13 ?
 CMT2H (allelic to CMT2K and CMT4A) AD 8q21.3 GDAP1
 CMT2I and 2J (allelic to CMT1B) AD 1q22 MPZ
 CMT2K (allelic to CMT2H and CMT4A) AD/AR 8q13–q21 GDAP1
 CMT2L (allelic to distal hereditary motor neuropathy type 2) AD 12q24 HSPB8
 CMT2M AD 19p13.2 DYN2
 CMT2N AD 16q22.1 AARS
 CMT2O AD 14q32.31 DYNC1HI
 CMT2P AD/AR 9 q33 LRSAM1
 CMR2 AR DNAJB2
 CMT2X X-linked Xq22.3 PRPSI
 CMT2X X-linked Xp22.11 PDGK3
DI-CMT
 DI-CMTA AD 10q24.1–q25.1 ?
 DI-CMTB AD 19p12–p13.2 DYN2
 DI-CMTC AD 1p34–p35 YARS
RI-CMT AR 1p36.31 PLEKHG5
CMT3 (Dejerine–Sottas disease, congenital hypomyelinating neuropathy) AD 17p11.2 PMP22
AD 1q21–23 MPZ
AR 10q21.1–22.1 ERG2
AR 19q13 PRX
CMT4
 CMT4A (allelic to CMT2H and 2K) AR 8q13–21.1 GDAP1
 CMT4B1 AR 11q23 MTMR2
 CMT4B2 AR 11p15 MTMR13
 CMT4C AR 5q23–33 SH3TC2
 CMT4D (HMSN-Lom) AR 8q24 NDRG1
 CMT4E (congenital hypomyelinating neuropathy) AR Probably includes PMP22, MPZ, and ERG2
 CMT4F AR 19q13.1–13.3 PRX
 CMT4G (CMT-Russe type) AR 10q23.2 HK1
 CMT4H AR 12q12–q13 FGD4
 CMT4J AR 6q21 FIG4
Other hereditary neuropathies
 HNA AD 17q24 SEPT9
 HMSN-P AD 3q13–q14 TFG

CMT, Charcot–Marie–Tooth; DI-CMT, dominant intermediate CMT; HNNP, hereditary neuropathy with liability to pressure palsies; HNA, hereditary neuralgic amyotrophy; SMA, spinal muscular atrophy; LGMD, limb girdle muscular dystrophy; HMSN-P, hereditary motor and sensory neuropathy-proximal; AD, autosomal dominant; AR, autosomal recessive; Genes: AARS, alanyl-trRNA synthetase; BSCL2, Berardinelli–Seip congenital lipodystrophy type 2; DNM2, dynamin 2; DYNCH1H1, cytoplasmic dynein 1 heavy chain 1; EGR2, early-growth response 2; GARS, glycyl-tRNA synthetase; GDAP1, ganglioside-induced differentiation-associated protein 1; GJB1, gap junction B1/connexin-32; HSJ1 (or DNAJB2), heat-shock protein J1 (or DnaJ Hsp40); HSPB1 (or HSP27), heat-shock 27-kDa protein 1; HSPB8 (or HSP22), ...

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