Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography.
OBJECTIVE
Charcot-Marie-Tooth (CMT) disease is a collection of related genetic disorders affecting peripheral nerves with an incidence of one in every 2500 individuals. A diagnosis of CMT disease has classically relied on a medical history, examination, and measurement of nerve conduction velocities. Advancements in genetic testing and magnetic resonance (MR) imaging techniques may provide clinicians with a more precise diagnostic armamentarium. The authors investigated MR neurography as a possible method to characterize CMT subtypes.


METHODS
The authors performed MR neurography to evaluate sciatic nerves in the mid-thigh area of seven patients with genetically defined subtypes of CMT, one patient with chronic inflammatory demylinating polyneuropathy, and one patient without neuropathy. The authors correlate their findings with normal nerve conduction velocities (NCVs) and present their results as a descriptive case series. Although MR neurography could not be used to distinguish subtypes of CMT disease on nerve area or fascicle number, it appears to characterize phenotypic features and disease progression noninvasively in patients with some subtypes.


CONCLUSIONS
In conjunction with NCV measurements, MR neurography may be useful in the diagnosis of CMT neuropathies and in monitoring disease progression.
Ellegala
Dilantha B
DB
Department of Neurological Surgery, University of Virginia, Charlottesville, Virginia, USA.
Monteith
Stephen J
SJ
Haynor
David
D
Bird
Thomas D
TD
Goodkin
Robert
R
Kliot
Michel
M
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000295:instrumentation*; D008279:Magnetic Resonance Imaging / Q000295:instrumentation*; D008297:Male; D008875:Middle Aged; D009412:Nerve Fibers / Q000473:pathology; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000175:diagnosis; D012584:Sciatic Nerve / Q000473:pathology; D020426:Sciatic Neuropathy / Q000175:diagnosis / Q000235:genetics*