giant axons in CMT = Research from Italy

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Abstract from Neurology. 2003 Oct 14;61(7):988-90.

Charcot-Marie-Tooth disease with giant axons: A clinicopathological and

genetic entity.

Lus G, Nelis E, Jordanova A, Lofgren A, Cavallaro T, Ammendola A, Melone

MA, Rizzuto N, Timmerman V, Cotrufo R, De Jonghe P.

Department of Neurological Sciences (Drs. Lus, Ammendola, Melone, and

Cotrufo), First Division of Clinical Neurology, Faculty of Medicine,

Second University of Naples and Interuniversity Center for Research in

Neuroscience, Naples, Italy.

The authors report an Italian family with autosomal-dominant

Charcot-Marie-Tooth disease (CMT) in which there were giant axons in the

sural nerve biopsy. Linkage to the known CMT2 loci (CMT2A, CMT2B, CMT2D,

CMT2F) and mutations in the known CMT2

genes (Cx32, MPZ, NEFL), GAN, NEFM, and CMT1A duplication/HNPP deletion

were excluded. This family with CMT and giant axons has a pathologic and

genetic entity distinct from classic CMT.