Charcot Marie Tooth disease recessive intermediate (CMTRI)

CMTRIA

• This is caused by mutations in the GDAP gene on chromosome 8q
• This also causes CMT4A
• The onset is in early childhood
• It causes a severe phenotype
• There is prominent foot deformity
• Neurophysiology shows a mixed axonal and demyelinating neuropathy

CMTRIB

CMTRIc

CMTRId

Synonym

RI-CMT

Acronyms

References

1. Senderek J, Bergmann C, Ramaekers VT, et al. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 2003; 126:642-649.
2. Nelis E, Erdem S, Van Den Bergh PY, et al. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 2002; 59:1865-1872.
3. McLaughlin HM, Sakaguchi R, Liu C, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 2010; 87:560-566. 
4. Azzedine H, Zavadakova P, Planté-Bordeneuve V, et al. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet 2013; 22:4224-4232.
5. Kim HJ, Hong YB, Park JM, et al. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Orphanet J Rare Dis 2013; 8:104. 
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Related checklists

• Charcot Marie Tooth disease 3 (CMT3)
• Charcot Marie Tooth disease 5 (CMT5)
• Charcot Marie Tooth disease 6 (CMT6)
• Charcot Marie Tooth disease dominant intermediate type (CMTDI)
• Charcot Marie Tooth disease 2DD (CMT2DD)