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[Immune-mediated / inflammatory and hereditary neuropathies - overview and diagnostic algorithm].

Beate Schlotter-Weigel1, Jan Senderek1

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Summary

This practical survey covers immune-mediated, inflammatory, and hereditary neuropathies, offering diagnostic guidance. It details clinical and genetic factors for accurate diagnosis and classification of these nerve disorders.

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Area of Science:

  • Neurology
  • Genetics

Background:

  • Immune-mediated, inflammatory, and hereditary neuropathies encompass a broad spectrum of neurological disorders.
  • Conditions include Guillain-Barré syndrome, chronic-inflammatory demyelinating polyradiculoneuropathy, vasculitic, paraneoplastic, paraproteinemic neuropathies, and those from connective tissue disorders.

Purpose of the Study:

  • To provide a practical survey of immune-mediated, inflammatory, and hereditary neuropathies.
  • To offer recommendations for diagnostic procedures for various neuropathy types.

Main Methods:

  • Review of clinical features, including sensorimotor deficits progression and distribution.
  • Analysis of electroneurographic findings and antibody profiles.
  • Examination of genetic causes and prevalence data for hereditary neuropathies.

Main Results:

  • Over 80 genes associated with hereditary neuropathies have been identified.
  • Hereditary neuropathies affect 10-28 per 100,000 individuals in Europe.
  • Classification based on electroneurography (axonal, demyelinating, intermediate) and clinical features aids genetic analysis.

Conclusions:

  • Accurate diagnosis relies on integrating clinical presentation, electrophysiological data, and genetic information.
  • Understanding the diverse causes and subtypes of neuropathies is crucial for effective management.
  • Continued research into genetic factors will further refine diagnostic and therapeutic strategies.