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Genes for peripheral neuropathy and their relevance to clinical practice

University Dept of Clinical Neurology, The Radcliffe Infirmary, Oxford, UK

Correspondence to:
Correspondence to:
Dr M Donaghy
University Dept of Clinical Neurology, The Radcliffe Infirmary, Woodstock Road, Oxford OX2 6HE, UK; joanna.wilkinson@clneuro.ox.ac.uk

Abbreviations: CMT, Charcot-Marie-Tooth disease; HASN, hereditary sensory and autonomic neuropathy; HMSN, hereditary motor and sensory neuropathy

Keywords: neuropathy

The first 150 words of the full text of this article appear below.

Identification of neurological disease genes has expanded and transformed the neurologist’s nosology in the last decade. Yet some clinicians see the resultant overload of detail as merely making the diagnosis and management of patients more cumbersome with little tangible benefit. Using the example of inherited peripheral neuropathy it is timely for a clinician’s perspective of where neurogenetics has taken present day neurological practice and what the future might hold.

Prior to molecular genetics, most neurologists kept a simple classification of inherited peripheral neuropathy in mind: demyelinating and axonal forms of hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT);¹ the hereditary sensory and autonomic neuropathies (HASN);² hereditary liability to pressure palsies;³ and the hereditary amyloiditic polyneuropathies.⁴ Although workaday, this classification’s deficiencies were apparent. For example, a significant minority of patients with HMSN could not be categorised cleanly as either Type 1 (demyelinating) or . . . [Full text of this article]