Diagnosis of hereditary neuropathies in adult patients

J Neurol. 2003 Feb;250(2):148-60. doi: 10.1007/s00415-003-1030-3.


This paper reviews the clinical diagnostic approach to hereditary neuropathies in adults by analysing: elements that point to a neuropathy of inherited origin, different modalities of presentation, laboratory and instrumental diagnostic tests, including molecular tests, symptoms and signs of involvement of other organs. Different phenotypes may be identified according to: disease course; involvement of motor, sensory, autonomic fibres; site of lesion (neuropathy versus neuronopathy); calibre of involved fibres (small-fibre versus large-fibre neuropathy); presence of distinctive symptoms (neuropathic pain); involvement of other organs or apparatus. Charcot-Marie-Tooth disease, Familial Amyloid Polyneuropathy, Hereditary Sensory and Autonomic Neuropathy, Fabry disease, Tangier disease, Porphyric Neuropathies, Refsum disease, Hereditary Neuropathy with liability to Pressure Palsies, Hereditary Neuralgic Amyotrophy, and other rare disorders involving the peripheral nervous system are reviewed.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acute Disease
  • Adult
  • Diagnosis, Differential
  • Disease Progression
  • Hereditary Sensory and Motor Neuropathy / diagnosis
  • Hereditary Sensory and Motor Neuropathy / genetics
  • Humans
  • Nervous System Diseases / diagnosis*
  • Nervous System Diseases / genetics*
  • Phenotype
  • Recurrence