Charcot Marie Tooth disease 2P (CMT2P)

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

Charcot Marie Tooth disease 2P (CMT2P). This is caused by mutations in the LRSAM1 gene on chromosome 9q. Fully referenced neurology checklist.

Genetics and pathology

  • This is caused by mutations in the LRSAM1 gene on chromosome 9q
  • The transmission is autosomal dominant or recessive
  • The mutation probably causes anterior horn cell damage
  • The onset is in early adulthood
  • It was previously designated CMT2G

Clinical features

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Nerve conduction studies (NCS): features

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Other investigations

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Acronym

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References

  1. Hakonen JE, Sorrentino V, Avagliano Trezza R, et al. LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P. Hum Mol Genet 2017; doi: 10.1093/hmg/ddx089 (Epub ahead of print).
  2. Engeholm M, Sekler J, Schöndorf DC, et al. A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance. BMC Neurol 2014; 14:118. 
  3. Peeters K, Palaima P, Pelayo-Negro AL, et al. Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. Ann Neurol 2016; 80:823-833.

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