Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

The diagnosis of Charcot-Marie-Tooth disease (CMT) and related neuropathies (e.g. Déjèrine-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.

Original languageEnglish
Pages (from-to)72-82
Number of pages11
JournalNeurological Sciences
Volume25
Issue number2
Publication statusPublished - Jun 2004

Fingerprint

Charcot-Marie-Tooth Disease
Differential Diagnosis
Refsum Disease
Familial Amyloid Neuropathies
Genetic Counseling
Molecular Biology
Immune System
Animal Models
DNA
Research
Tomaculous neuropathy

Keywords

  • Charcot-Marie-Tooth disease
  • CIDP
  • Déjèrine-Sottas disease
  • Hereditary neuropathy
  • HNPP
  • Refsum disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. / Pareyson, D.

In: Neurological Sciences, Vol. 25, No. 2, 06.2004, p. 72-82.

Research output: Contribution to journalArticle

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