Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity

G Lus; E Nelis; A Jordanova; A Löfgren; T Cavallaro; A Ammendola; M A B Melone; N Rizzuto; V Timmerman; R Cotrufo; P De Jonghe

doi:10.1212/wnl.61.7.988

Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity

Neurology. 2003 Oct 14;61(7):988-90. doi: 10.1212/wnl.61.7.988.

Authors

G Lus¹, E Nelis, A Jordanova, A Löfgren, T Cavallaro, A Ammendola, M A B Melone, N Rizzuto, V Timmerman, R Cotrufo, P De Jonghe

Affiliation

¹ Department of Neurological Sciences, First Division of Clinical Neurology, Faculty of Medicine, Second University of Naples and Interuniversity Center for Research in Neuroscience, Naples, Italy. giacomo.lus@unina2.it

PMID: 14557576
DOI: 10.1212/wnl.61.7.988

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Axons / pathology*
Axons / ultrastructure
Biopsy
Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / pathology*
Charcot-Marie-Tooth Disease / physiopathology
Child
DNA Mutational Analysis
Electrodiagnosis
Female
Genes, Dominant
Humans
Italy
Male
Middle Aged
Pedigree
Peripheral Nerves / pathology
Peripheral Nerves / physiopathology
Sural Nerve / pathology
Sural Nerve / ultrastructure