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Related Experiment Video

Updated: May 15, 2026

In Vivo Electrophysiological Measurement of the Rat Ulnar Nerve with Axonal Excitability Testing

In Vivo Electrophysiological Measurement of the Rat Ulnar Nerve with Axonal Excitability Testing

Published on: February 6, 2018

[Genetics of neuropathies].

B Gess¹, A Schirmacher, P Young

¹Klinik für Neurologie, Sektion für Schlafmedizin und ambulante Neurologie, Universitätsklinikum Münster, Albert-Schweitzer Campus 1, Gebäude A1, 48149, Münster, Deutschland. burkhard.gess@gmail.com

|January 18, 2013

Summary

Hereditary neuropathies are common neurogenetic disorders. This review covers known genes and proposes a genetic testing strategy for efficient diagnosis.

Area of Science:

Neurogenetics
Neurology
Molecular Genetics

Context:

Hereditary neuropathies are frequent neurogenetic disorders with diverse clinical presentations.
Accurate diagnosis is crucial for effective patient management and genetic counseling.
Over 40 genes are implicated, highlighting significant genetic heterogeneity.

Purpose:

To provide a comprehensive overview of known genes associated with hereditary neuropathies.
To propose a rational genetic work-up protocol for common hereditary neuropathies.
To aid clinicians in diagnosing and managing these complex disorders.

Summary:

This review details the genetic landscape of hereditary neuropathies, noting over 40 causative genes.
It highlights that four genes account for approximately 90% of diagnosed cases.

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Last Updated: May 15, 2026

In Vivo Electrophysiological Measurement of the Rat Ulnar Nerve with Axonal Excitability Testing

In Vivo Electrophysiological Measurement of the Rat Ulnar Nerve with Axonal Excitability Testing

Published on: February 6, 2018

Three-dimensional Imaging of Nociceptive Intraepidermal Nerve Fibers in Human Skin Biopsies

Three-dimensional Imaging of Nociceptive Intraepidermal Nerve Fibers in Human Skin Biopsies

Published on: April 29, 2013

A structured genetic testing approach for the most prevalent genes is presented.

Impact:

Facilitates accurate genetic diagnosis of hereditary neuropathies.
Aids in understanding the genetic basis of sensory and motor neuropathies.
Supports the development of targeted diagnostic strategies and potential future therapies.