Characterization of genetically defined types of CMT neuropathies by using magnetic resonance neurography

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J Neurosurg. 2005 Feb;102(2):242-5.

Characterization of genetically defined types of Charcot-Marie-Tooth

neuropathies by using magnetic resonance neurography.

Ellegala DB, Monteith SJ, Haynor D, Bird TD, Goodkin R, Kliot M.

Department of Neurological Surgery, University of Virginia, Charlottesville,

Virginia, USA.

OBJECT: 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.