Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.
The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0.
Fabrizi
G M
GM
Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Italy. gianmaria.fabrizi@univr.it
Cavallaro
T
T
Angiari
C
C
Bertolasi
L
L
Cabrini
I
I
Ferrarini
M
M
Rizzuto
N
N
D000328:Adult; D001369:Axons / Q000473:pathology* / Q000648:ultrastructure; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004568:Electrodiagnosis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D016900:Neurofilament Proteins / Q000235:genetics* / Q000378:metabolism* / Q000648:ultrastructure; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology
D016900:Neurofilament Proteins; C044882:neurofilament protein L