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CMT & HMSN: Demyelinating Dominant CMT 1A: PMP-22; 17p12 CMT 1B: P0 protein; 1q23 CMT 1C: LITAF; 16p13 CMT 1D: EGR2; 10q21 CMT 1E (Deafness) PMP-22: 17p12 P0 protein: 1q23 CMT 1F: NEFL; 8p21 CMT 1G: PMP2; 8q21 CMT 1H: FBLN5; 14q32 CMT 1I: POLR3B; 12q23 CMT1J: ITPR3; 6p21 CMT1: c1orf194; 1p13 CMT: ATP1A1; 1p13 HNPP PMP-22 (Deletion or Point); 17p12 KARS; 16q23 HMSN 3 (Dejerine-Sottas) PMP-22; P0; 8q23; EGR2 Thermosensitive PNS & CNS hypomyelin: SOX10; 22q13 Sensory PN + Hearing loss: GJB3; 1p34 Hypomyelination: ARHGEF10; 8p23 CMT-DIF: GNB4; 3q26 ATXPC: SAMD9L HMSN: HARS; 5q31 HMSN: BAG3; 10q25 Recessive: Also AR-CMT1 CMT 4A: GDAP1; 8q21 CMT 4B1: MTMR2; 11q22 CMT 4B2: SBF2; 11p15 CMT 4B3: SBF1; 22q13 CMT 4C: SH3TC2 (KIAA1985); 5q32 CMT 4D (Lom): NDRG1; 8q24 CMT 4E: EGR2; 10q21 CMT 4F: Periaxin; 19q13 HMSN-Russe (4G): HK1; 10q22 CMT 4H: FGD4; 12q12 CMT 4J: FIG4; 6q21 CMT 4K: SURF1; 9q34 HMSN 3 (Dejerine-Sottas) P0; PMP-22; EGR2; Periaxin HMSN + Juvenile glaucoma Cataracts (CCFDN): CTDP1; 18qter Cockayne's: 5 Congenital hypomyelinating P0, PMP-22 & EGR-2 Farber lipogranulomatosis: ASAH; 8p22 CDG1a: PMM2; 16p13 Krabbe: GALC; 14q31 MLD: ARSA; 22q13 PMP-22 point mutations Refsum's disease Child-Adult: PHYH; 10pter-p11.2 Adolescent-Adult: PEX7; 6q22 Infant: PEX1; 7q21 PHARC: ABHD12; 20p11 PBD8B: PEX16; 11p11 HMSN + CNS: Heterogeneous Neurodegeneration: DNAJC3; 13q32 X-linked CMTX1 (Males): GJB1 (CX32); Xq13 CMTX3: Xq27 Pyramidal signs |
CMT & HMSN: Axonal
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CMT + Intermediate NCV Dominant CMT-DIA: GBF1; 10q24 CMT-IB: DNM2; 19p13 CMT-DIC: YARS; 1p35 CMT-DID: P0; 1q22 CMT-DIE: INF2; 14q32 CMT-DIF: GNB4; 3q26 CMT-DIG: NEFL; 8p21 CMT-DI: c1orf194; 1p13 CMT-DI: EBP50; 17q25.1 CMT-DI: SARS1; 1p13 CMT-X (Semi-dominant): GJB1 CMT 1C: LITAF; 16p13 CMT 2E: NEFL; 8p21 Hypomyelination: ARHGEF10; 8p23 PN: NOTCH2NLC; 1q21 Recessive CMT RIA: GDAP1; 8q21.1 CMT RIB: KARS; 16q23 CMT RIC: PLEKHG5; 1p36 CMT RID: COX6A1; 12q24 CMT XI: DRP2; Xq22 Other related names or disorders α-Methylacyl-CoA racemase (AMACR) Brachial plexopathy, Hereditary Childhood onset neuropathies CNS & Cranial nerve disorders Complex clinical syndromes Congenital Hypomyelinating EGR2: 10q21 P0: 1q22 PMP-22: 17p11 ARHGEF10; 8p23 Connective tissue: EMILIN1; 2p23 Cowchock: AIFM1; Xq26 Dejerine-Sottas (HMSN 3) Focally folded myelin sheaths CMT 4B: MTMR2; 11q23 CMT 4B2: SBF2; 11p15 CMT 4E: EGR2; 10q21 CMT 4F: Periaxin; 19q13 P0: 1q22 Juvenile glaucoma Hereditary Motor neuropathies Distal (dHMN) Sensory neuropathies (HSN; HSAN) Metabolic abnormalities Minifascicles & Gonadal dysgenesis HSN: DHH; 12q12 Myelin disorders; Recessive Recurrent Brachial plexopathy Pressure palsies (HNPP): PMP-22 Neuropathy: 21q21 SCA + Neuropathy SMARD SPG + Neuropathy Vertical talus: HOXD10; 2q31 |
Charcot-Marie-Tooth (CMT) Features Associated Childhood Childhood CMT Comparative General Molecules Pathology Myelin proteins External links Mutation database Mutations ![]() |
Prevalence
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Pathology in hereditary neuropathies: Differential diagnosis 120
Other hereditary motor-sensory neuropathies
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![]() Bramwell 1907 |
Clinical CMT (HMSN): Differential Diagnosis & Associated Features
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PMP-22 Gene mutations Clinical-Gene relations Duplication Contiguous gene (YUHAL) Triplication Homozygous (Duplication) Point Allelic disorders Recessive CMT 1E (Deafness) Protein Pathology Also see: HNPP |
![]() CMT 1A
PMP-22 Duplication |
![]() Chaddock 1900 |
P0: Genetic features Clinical-Gene correlations P0 protein P0 Clinical syndromes Myelin Δ CMT 1B: Dominant CMT 1B (Roussy-Levy): Dominant CMT 1B: Dominant; Pupils; Early onset CMT 1E: Dominant; Hearing loss CMT: Semi-Dominant Congenital: Rec or Dom; Hypomyelin Dejerine-Sottas: Dominant or Recessive Entrapment + Focal-folding Hypertrophic radiculopathy Increased P0 gene dosage: Dominant Roussy-Levy Steroid responsive, Late-onset Axonal CMT 2I: Dominant CMT 2J: Dominant; Pupil Δ; Hearing ↓ Adult onset (Axonal) Intermediate NCV CMT-DID: Dominant P0 variant syndromes Nerve pathology |
![]() P0 |
Type 1: GJB1 Variants Type 2 Type 3 Type 4 (Cowchock): AIFM1 Type 5: PRPS1 Pyramidal signs |
![]() ● Connexin-32 (GJB1) ![]() ![]()
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CMT 2A2A
![]() ● Mitofusin 2 (MFN2; KIAA0214) ![]()
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AR-CMT2A: Lamin A/C; 1q22 AR-CMT2B: MED25; 19q13.3 AR-CMT2 + Hoarseness (CMT 2K): GDAP1; 8q21 AR-CMT2, Severe & Early onset: NEFL; 8p21 AR-CMT2/Distal HMN: HSPB1; 7q11-q21 AR-CMT2: LRSAM1; 9q33 AR-CMT2-Acrodystrophy AR-CMT2-Ouvrier: Early childhood onset AR-CMT2 + Neuromyotonia: HINT1; 5q31 Andermann (Corpus callosum Δ): 15q13 CMT X-linked HMSN + CNS: Heterogeneous Giant axonal neuropathy: Gigaxonin; 16q24 HMSN + Deafness HMSN + Optic neuropathy ± Deafness Lethal Neonatal Neuroaxonal dystrophy |
GDAP1 CMT Variants Axonal Recessive (AR-CMT 2K) Recessive, Mild Dominant (CMT 2K) Intermediate Recessive, Type A (CMT RIA) Demyelinating Recessive, (CMT 4A) |
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Hereditary Motor-Sensory or Motor Neuropathy (HMNR8; SORDDPN)
![]() ● Sorbitol Dehydrogenase (SORD) ![]()
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General Clinical Types |
![]() Dejerine & Sottas 1893 |
DSS- A: PMP-22 B: P0 C: 8q23 Periaxin EGR2 |
PMP-22 mutations Clinical Genetics Biallelic deletions Laboratory Pathology Images KARS mutations |
CMT 4B1
![]() ● Myotubularin-related protein-2 (MTMR2) ![]()
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CMT4B1 (AR-CMT-DM-MTMR2): Peripheral Nerve Ultrastructure Myelin: Remaining sheaths have many, aberrant myelin out-foldings Onion-bulbs: Irregular; Small Axon loss: Severe ![]() From: JM Vallat & M Tazir |
CMT 4H
![]() ● frabin/FGD4 ![]() ![]()
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Dominant, Axonal Dominant, Demyelinating Recessive, Axonal Recessive, Demyelinating X-linked, Demyelinating Childhood onset |
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