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.

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E

Fabrizi G. M.;Cavallaro T.;Angiari C.;Bertolasi L.;Cabrini I.;Ferrarini M.;Rizzuto N.
2004

Abstract

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.
CMT2; giant axons; neurofilament-light gene; NF-L
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11562/305431
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