title: Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.
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.
authors.affiliation: 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
authors.forename: G
authors.initials: G
authors.lastname: Lus
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: A
authors.initials: A
authors.lastname: Jordanova
authors.forename: A
authors.initials: A
authors.lastname: Löfgren
authors.forename: T
authors.initials: T
authors.lastname: Cavallaro
authors.forename: A
authors.initials: A
authors.lastname: Ammendola
authors.forename: M A B
authors.initials: MA
authors.lastname: Melone
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: R
authors.initials: R
authors.lastname: Cotrufo
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
mesh_terms: D000328:Adult; D000368:Aged; D001369:Axons / Q000473:pathology* / Q000648:ultrastructure; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D004568:Electrodiagnosis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure