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Charcot-Marie-Tooth diseases

Monday 29 September 2003

Demyelinating Charcot-Marie-Tooth disease is mainly characterized by the presence of myelin outfoldings on nerve biopsies.

Classification

- Charcot-Marie-Tooth disease type 1 (CMT1s)

  • CMT1A: Charcot-Marie-Tooth disease type 1A (MIM.118220): mutations of PMP22 (MIM.601097)
  • CMT1B: Charcot-Marie-Tooth disease type 1B: mutations of MPZ (MIM.159440)
  • CMT1C (MIM.601098)
  • CMT1D (MIM.607678)
  • CMT1E (MIM.607734)
  • CMT1F (MIM.607734)

- Charcot-Marie-Tooth disease type 2 (CMT2s)

  • CMT2A (CMT2A1)
  • CMT2B Charcot-Marie-Tooth disease type 2B (mutations in the small GTP-ase late endosomal protein RAB7)
  • CMT2C
  • CMT2D Charcot-Marie-Tooth disease type 2D
  • CMT2E
  • CMT2F Charcot-Marie-Tooth disease type 2F (MIM.606595): mutation in HSPB1 (HSP27) (MIM.602195) (15122254)
  • CMT2G
  • CMT2H
  • CMT2I
  • CMT2J
  • CMT2K
  • CMT2L

- Charcot-Marie-Tooth disease type 3 (CMT3s)

- Charcot-Marie-Tooth disease type 4 (CMT4s)

  • CMT4A Charcot-Marie-Tooth disease type 4A (GDAP1 mutations)
  • CMT4B1 Charcot-Marie-Tooth disease Type 4B1 (MIM.601382) : mutations in the MTMR2 gene (MIM.603557), coding for myotubularin-related protein-2
  • CMT4B2
  • CMT4C Charcot-Marie-Tooth disease Type 4C (mutations in the CMT4C gene)
  • CMT4D

- X-linked Charcot-Marie-Tooth diseases (CMTXs)

  • CMTX1 (MIM.302800)
  • CMTX2 (MIM.302801)
  • CMTX3 (MIM.302802)
  • CMTX4 (MIM.310490)
  • CMTX5 (MIM.311070)

- other variants

  • dominant intermediate Charcot-Marie-Tooth
    • dominant intermediate Charcot-Marie-Tooth disease type A
    • dominant intermediate Charcot-Marie-Tooth disease type B (MIM.606482) (DNM2 germline mutations)

References

- Young P, Suter U. The causes of Charcot-Marie-Tooth disease.
Cell Mol Life Sci. 2003 Dec;60(12):2547-60. PMID: 14685682

- Tanaka Y, Hirokawa N. Mouse models of Charcot-Marie-Tooth disease. Trends Genet. 2002 Dec;18(12):S39-44. PMID: 12446157