3 new genes for CMT - Research Update

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Abstract from Curr Opin Neurol. 2003 Oct;16(5):613-22.

Hereditary neuropathies

Berciano J, Combarros O.

SUMMARY: PURPOSE OF REVIEW This review will update recent advances in

the genetics, clinico-electrophysiological, pathological data and

pathophysiology of Charcot-Marie-Tooth disease and related disorders.

RECENT FINDINGS Hereditary neuropathies continue to be in a state of

constant flux, reflecting the rapid advances in the description of

causative genes, three additional Charcot-Marie-Tooth genes having been

identified in recent months. Such an ever-increasing body of genetic

data provides valuable clues to the pathogenetic

mechanisms of both nerve demyelination and nerve axonal degeneration.

The classification of Charcot-Marie-Tooth disease is increasingly more

complex as there are approximately 26 loci; for clinicians to reach a

simplified classification is a pressing need.

Genotypic-phenotypic correlations are still incomplete and will require

further research, starting from both refined molecular investigations

and detailed clinical, electrophysiological, and pathological studies.

Recent epidemiological surveys have corroborated the fact that

Charcot-Marie-Tooth disease is the most common type of hereditary

neuropathy.

SUMMARY Advances in molecular genetics in hereditary neuropathies, and

mainly in Charcot-Marie-Tooth disease, have enriched our knowledge of

this heterogeneous group of disorders. In spite of this there remain

important and basic issues, such as an

updated and revised classification of Charcot-Marie-Tooth disorders, the

better delineation of phenotypic-genotypic correlations, and further

research to map as yet non-localized loci or to identify unknown gene

mutations.