Autosomal-Dominant Axonal CMT Molecular Genetics

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Neuromolecular Med. 2006;8(1-2):63-74.

Molecular genetics of autosomal-dominant axonal charcot-marie-tooth

disease.

Zuchner S, Vance JM.

Center for Human Genetics, Duke University Medical Center, 595

LaSalle Street, Box 3445 DUMC, Durham, NC 27710, USA.

The autosomal-dominant axonal peripheral neuropathies comprise a

genetically heterogeneous group of disorders that are clinically

subsumed under Charcot-Marie-Tooth disease type 2 (CMT2). A

significant increase in the number of genes underlying major forms of

CMT2 has improved the classification of specific CMT phenotypes.

The molecular dissection of cellular functions of the related gene

products has only begun and detailed pathophysiological models are

still missing, but already the biological scope of genes linked to

CMT2 is more diversified than CMT1.

The known CMT2 genes present key players in these pathways and will

likely prove as powerful tools in identifying eventual future targets

for therapeutic intervention.