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Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Strategy for genetic analysis in hereditary neuropathy.

M Masingue¹, G Fernández-Eulate¹, R Debs²

¹Centre de référence des maladies neuromusculaires Nord/Est/Île-de-France, hôpital Pitié-Salpêtrière, AP-HP, Paris, France.

Revue Neurologique

|December 24, 2022

Summary

This review guides genetic diagnosis for inherited neuropathies, which affect peripheral nerves. It covers clinical clues, neurophysiology, and treatments for various inherited nerve disorders.

Keywords:

Amyloidosis Charcot-Marie-Tooth disease Genome Inborn error of metabolism Inherited neuropathy

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Area of Science:

Neurology
Genetics
Clinical Medicine

Background:

Inherited neuropathies are diverse, progressive disorders impacting motor, sensory, or autonomic nerves.
They can be primary conditions like Charcot-Marie-Tooth disease or part of complex multisystemic diseases.

Purpose of the Study:

To offer clinical guidance for the genetic diagnosis of inherited peripheral neuropathies.
To review primary inherited neuropathies, amyloidosis, and inherited metabolic diseases.

Main Methods:

Literature review focusing on clinical presentation, neurophysiology, and genetics.
Synthesis of information on diagnostic criteria and therapeutic approaches.

Main Results:

Identified key clinical features that suggest specific genetic diagnoses.
Detailed the clinical and neurophysiological characteristics of various inherited neuropathies.
Outlined potential therapeutic strategies for these conditions.

Conclusions:

Accurate genetic diagnosis is crucial for managing inherited neuropathies.
Understanding the heterogeneity of these disorders aids in patient stratification and treatment selection.