Hereditary motor and sensory neuropathies. Clinical and molecular genetic aspects |
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Authors: | JS Lechner-Scott RJ Scott AJ Steck L Kappos |
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Affiliation: | Neurologische Universit?tsklinik, Kantonsspital, Basel. |
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Abstract: | Hereditary motor sensory neuropathies are a heterogeneous group of inherited diseases of the peripheral nerves. In this review the clinical and genetic differences between the sub-groups of this disease will be discussed. Since the discovery of a 1.5 mb duplication on chromosome 17 p11.2-12 in most patients with a hereditary motor sensory neuropathy and a variety of different mutations on chromosomes 1 and X in other patients with a similar disease profile, Dycks' clinical classification needs to be re-evaluated. In this review Dycks' taxonomy of heridihary neuropathies will be compared to a new genetic classification and a relevant diagnostic procedure proposed when a hereditary neuropathy is suspected. |
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