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The inherited neuropathies.

Christopher J Klein1

  • 1Department of Neurology, Division of Peripheral Nerve Diseases, Mayo Clinic, Rochester, MN, USA. klein.christopher@mayo.edu

Neurologic Clinics
|February 28, 2007
PubMed
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Inherited neuropathies are common neurologic referrals. Recent advances in genetic testing, driven by the human genome project, are rapidly identifying new causes of nerve disorders.

Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Neuropathy is a frequent reason for neurology clinic referrals.
  • While acquired causes are often investigated, inherited etiologies are prevalent.
  • Genetic causes of neuropathy are increasingly recognized with available commercial testing.

Purpose of the Study:

  • To highlight the growing importance of inherited neuropathies.
  • To emphasize the impact of recent genetic discoveries on clinical practice.
  • To inform clinicians about the evolving landscape of neuropathy diagnosis.

Main Methods:

  • Review of recent advancements in genetic discovery for neuropathies.
  • Consideration of the role of the human genome project.
  • Discussion of diagnostic approaches for inherited nerve disorders.

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Main Results:

  • The rate of discovery for genetic causes of neuropathy has accelerated.
  • Technological advancements facilitate identification of single gene disorders affecting nerves.
  • Functional examination and tissue analysis aid in diagnosis.

Conclusions:

  • Clinicians must stay abreast of molecular discoveries in neurology.
  • Judicious selection of genetic testing is crucial for diagnosing inherited neuropathies.
  • The field of inherited neuropathy is rapidly evolving due to genetic research.