Charcot Marie Tooth disease 2A (CMT2A)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Charcot Marie Tooth disease 2A (CMT2A). This is mainly caused by mitofusin 2 (MFN2) gene mutations. Fully referenced neurology checklist.

Genetics and epidemiology

  • This is mainly caused by mitofusin 2 (MFN2) gene mutations
  • The gene is on Chromosome 1p
  • It may also be caused by MPZ mutations

Onset phenotypes

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Clinical features

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Occasional features

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Magnetic resonance imaging (MRI)

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References

  1. Ouvrier R, Grew S. Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. Dev Med Child Neurol 2010; 52:328-330.
  2. Chung KW, Suh BC, Cho SY, et al. Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. JNNP 2010; 81:1203-1206.
  3. Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006; 129:2103-2118.
  4. Bienfait HME, Baas F, Koelman JHTM, et al. Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology 2007; 68:1658-1667.
  5. Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. JNNP 1999; 66:779-782.
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