Charcot Marie Tooth disease 2X (CMT2X)

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

Charcot Marie Tooth disease 2X (CMT2X). This is caused by mutations in the SPG11 gene on chromosome 15q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the SPG11 gene on chromosome 15q
  • The mean onset age is in the second decade

Gene related disorders

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Clinical features

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Occasional features

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Acronym

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References

  1. Montecchiani C, Pedace L, Lo Giudice T, et al. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 2016; 139:73-85.

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