Two novel mutations in dynamin-2 cause axonal CMT disease

[Guest guest]

NEUROLOGY 2007;69:291-295

2007 American Academy of Neurology

Two novel mutations in dynamin-2 cause axonal Charcot–Marie–Tooth

disease

G. M. Fabrizi, MD, M. Ferrarini, PhD, T. Cavallaro, MD, I. Cabrini,

PhD, R. Cerini, MD, L. Bertolasi, MD and N. Rizzuto, MD

From the Section of Clinical Neurology, Department of Neurological

and Visual Sciences (G.M.F., M.F., T.C., I.C., L.B., N.R.), and

Section of Radiology, Department of Morphological and Biomedical

Sciences (R.C.), University of Verona, Italy.

Background: Recently, mutations affecting different domains of

dynamin-2 (DNM2) were associated alternatively with autosomal

dominant centronuclear myopathy or dominant intermediate

(demyelinating and axonal) Charcot–Marie–Tooth disease (CMT) type B.

Objective: To assess the etiologic role of DNM2 in CMT.

Methods: We performed a mutational screening of DNM2 exons 13

through 16 encoding the pleckstrin homology domain in a large series

of CMT patients with a broad range of nerve conduction velocities

and without mutations in more common genes.

Results: We identified two novel DNM2 mutations that cosegregated

with purely axonal CMT in two pedigrees without clinical evidence of

primary myopathy.

Conclusion: Patients with axonal Charcot–Marie–Tooth disease type 2

neuropathy without mutations in more common genes should undergo

investigation for DNM2 pleckstrin homology.