Differential diagnosis of CMT disease and related neuropathies

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Research Abstract from Neurol Sci. 2004 Jun;25(2):72-82. Related

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Differential diagnosis of Charcot-Marie-Tooth disease and related

neuropathies.

Pareyson D.

Division of Biochemistry and Genetics, C. Besta National Neurological

Institute, Via Celoria 11, I-20133, Milan, Italy

The diagnosis of Charcot-Marie-Tooth disease (CMT) and related

neuropathies (e. g. Dejerine-Sottas disease; hereditary neuropathy with

liability to pressure palsies) appears to be easy. However, the

incredible advances in molecular genetics have greatly complicated the

classification of these disorders, and the proper diagnosis of the CMT

subtype may be important for correct genetic counselling and prognosis.

Moreover, these diseases may be confused with potentially treatable

acquired and inherited neuropathies, such as dysimmune neuropathies,

familial amyloid polyneuropathy, and Refsum's disease. A number of

clinical, laboratory, electrophysiological, morphological and

neuroradiological features that may help in the diagnostic process are

reviewed in the present paper. DNA investigations are fundamental but

need to be properly addressed. Currently, great interest is focused on

the role of the immune system in hereditary neuropathies, and surprising

findings are coming from research on animal models.