Early onset neuropathy in compound form of CMT

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Ann Neurol. 2005 Mar 22;57(4):589-591

Early onset neuropathy in a compound form of Charcot-Marie-Tooth

disease.

Meggouh F, de Visser M, Arts WF, De Coo RI, van Schaik IN, Baas F.

Neurogenetics Laboratory, Academic Medical Center, Amsterdam, the

Netherlands.

A 2-year-old boy presented with early-onset Charcot-Marie-Tooth

disease (CMT). His parents had not been diagnosed previously with

CMT, but on careful examination they showed clinical signs of CMT and

reduced nerve conduction velocities. Genetic analysis identified the

boy as a heterozygote for both a peripheral myelin protein 22 (PMP22)

duplication and a mutation in the lipopolysaccharide-induced-tumour-

necrosis-factor-alpha-factor (LITAF) gene, whereas each parent only

had one mutated CMT gene. This suggests that LITAF mutations can

severely affect the CMT phenotype caused by a PMP22 duplication.