Diagnosis and new treatments in genetic neuropathies

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J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1304-14.

Diagnosis and new treatments in genetic neuropathies.

Reilly MM, Shy ME.

National Hospital for Neurology and Neurosurgery and Institute of Neurology,

Queen Square, London WC1N 3BG, UK.

The genetic neuropathies are a clinically and genetically heterogeneous group of

diseases of which the most common types are Charcot-Marie-Tooth disease (CMT),

the hereditary sensory and autonomic neuropathies and the distal hereditary

motor neuropathies. More than 30 causative genes have been described, making an

accurate genetic diagnosis increasingly possible.

Although no specific therapies are yet available, research into their

pathogenesis has revolutionised our understanding of the peripheral nervous

system and allowed the development of rational approaches to therapy. The first

therapeutic trials in CMT are currently underway. This review will suggest an

approach to the diagnosis of these disorders and provide an update on new

therapies.