(mentions CMT) Hereditary neuropathies

[Guest guest]

(I posted this earlier, but didn't see it in the posts; forgive the

double posts if it happens. ~ G)

Curr Opin Neurol. 2007 Oct;20(5):542-7.

Hereditary neuropathies.

Parman Y.

Istanbul Faculty of Medicine, Neurology Department, Istanbul

University, Istanbul, Turkey.

PURPOSE OF REVIEW: The purpose of this review is to help

neurologists understand new concepts in hereditary neuropathies,

from the clinician's point of view, in the molecular era after the

burst of information regarding peripheral nerve biology.

RECENT FINDINGS: Recent studies have focused on understanding the

pathomechanisms involved in hereditary neuropathies. In the past

year identification of new genes has slowed down since scientists

have concentrated more on the function of genes causing Charcot-

Marie-Tooth disease and Schwann cell-axon interactions to reveal the

molecular cell biology of the disease. Animal models for the most

common subtypes of human Charcot-Marie-Tooth disease are now

available.

SUMMARY: Rapid advances in the molecular genetics and cell biology

of hereditary neuropathies have highlighted the great genetic

complexity of Charcot-Marie-Tooth disease. The evolution from a

simple clinical classification to a complex molecular one has not

facilitated our understanding of the disease. Moreover, the new

molecular classification is not simple to use as different mutations

of the same gene produce a range of phenotypes. The clinicians have

to look for specific clinical and electrophysiological clues to

direct the patient to appropriate genetic testing.