Charcot Marie Tooth disease 2E (CMT2E)

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

Charcot Marie Tooth disease 2E (CMT2E). This is caused by mutations in the NEFL gene on chromosome 8p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the NEFL gene on chromosome 8p
  • The onset is in the second to third decades

Clinical features

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Occasional features

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Differential diagnosis

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Investigations

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Pathology

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Acronym

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References

  1. Mersiyanova IV, Perepelov AV, Polyakov AV, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000; 67:37-46. 
  2. Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 2002; 4:93-96.
  3. Doppler K, Kunstmann E, Krüger S, Sommer C. Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation. Muscle Nerve 2016; doi: 10.1002/mus.25410 (Epub ahead of print).
  4. Elbracht M, Senderek J, Schara U, et al. Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E. Clin Neuropathol 2014; 33:335-343.
  5. Agrawal PB, Joshi M, Marinakis NS, et al. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol 2014; 71:1413-1420. 
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