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Related Experiment Video

Updated: Jun 27, 2026

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

Hereditary neuropathies.

Safwan S Jaradeh¹

¹From the Department of Neurology, Medical College of Wisconsin, Milwaukee.

Journal of Clinical Neuromuscular Disease

|December 17, 2008

Summary

Genetic research has advanced the understanding of hereditary neuropathies. This review covers Charcot-Marie-Tooth (CMT), hereditary liability to pressure palsy (HNPP), and hereditary sensory and autonomic neuropathies (HSAN), detailing their clinical and genetic aspects.

Area of Science:

Neurology
Genetics
Molecular Biology

Background:

Hereditary neuropathies encompass a diverse group of genetic disorders affecting peripheral nerves.
Recent advancements in genetic research have significantly expanded the known spectrum of these conditions.

Purpose of the Study:

To review the current clinical and genetic approaches to hereditary neuropathies.
To illustrate these approaches using Charcot-Marie-Tooth (CMT), hereditary liability to pressure palsy (HNPP), and hereditary sensory and autonomic neuropathies (HSAN).

Main Methods:

Literature review focusing on recent genetic discoveries and clinical classifications.
Synthesis of information on the genetic basis and clinical manifestations of CMT, HNPP, and HSAN.

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Main Results:

The genetic landscape of hereditary neuropathies is rapidly evolving.
Specific genetic mutations are linked to distinct clinical phenotypes in CMT, HNPP, and HSAN.

Conclusions:

A comprehensive understanding of genetic underpinnings is crucial for diagnosing and managing hereditary neuropathies.
Continued research is essential for further unraveling the complexities of these disorders and developing targeted therapies.