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Muscle Nerve. 2006 May;33(5):589-97.

The dominantly inherited motor and sensory neuropathies: clinical and molecular advances.

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University of Sydney, Molecular Medicine Laboratory and Northcott Neurobiology Laboratory, ANZAC Research Institute, Clinical Sciences Building, Concord Hospital, NSW 2139, Australia.


The rapid advances in the molecular genetics and cell biology of hereditary neuropathy have revealed great genetic complexity. It is a challenge for physicians and laboratories to keep pace with new discoveries. Classification of hereditary neuropathies has evolved from a simple clinical to a detailed molecular classification. However, the molecular classification is not simple to use, as different mutations of the same gene produce a range of phenotypes. The logistics of testing for multiple gene mutations are considerable. This review gives a clinical overview of molecular and clinical advances in the dominant hereditary motor and sensory neuropathies [HMSNs, Charcot-Marie-Tooth (CMT) neuropathy], which account for some 60%-70% of families with CMT. The dominant forms of CMT have cellular mechanisms different from those of recessive forms and are a separate diagnostic challenge, so they are not included in this review. Diagnostic testing requires accurate clinical information and a selective approach to gene screening until the cost of multiple gene mutation screening falls. Accurate molecular diagnosis is critical to genetic counseling. This review concentrates on how molecular information can be used clinically, on how physicians can keep pace with new developments, and on the relevance of this new knowledge to patients.

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