Charcot Marie Tooth disease type 4 (CMT4): genetic subtypes

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

Charcot Marie Tooth disease type 4 (CMT4): genetic subtypes. This is caused by mutations in the GDAP1 gene on chromosome 8q.

CMT4A

  • This is caused by mutations in the GDAP1 gene on chromosome 8q
  • It is the most frequent form of CMT4

CMT4B1

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CMT4B2

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CMT4B3

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CMT4C

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CMT4D

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CMT4E

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CMT4F

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CMT4G

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CMT4H

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CMT4I

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CMT4J

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SCO2 mutation

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Acronyms

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References

  1. Claramunt R, Pedrola L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005; 42:358-365.
  2. Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. JNNP 2009; 80:1304–1314.
  3. Sevilla T, Cuesta A, Chumillas MJ, et al. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 2003; 126:2023-2033.
  4. Sevilla T, Jaijo T, Nauffal D, et al. Vocal cord paresis and diaphragmatic dysfunction were effete and frequent symptoms of GDAP1-associated neuropathy. Brain 2008; 131:3051-3061. 
  5. Martin AM, Maradei SJ, Velasco HM. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family. Colomb Med (Cali) 2015; 46:194-198.
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