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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

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DNA testing in hereditary neuropathies.

Sinéad M Murphy¹, Matilde Laurá, Mary M Reilly

¹MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK; Department of Neurology, Adelaide & Meath Hospitals Incorporating the National Children's Hospital, Tallaght, Dublin, and Trinity College Dublin, Ireland.

Handbook of Clinical Neurology

|August 13, 2013

Summary

This summary is machine-generated.

Molecular genetic testing is crucial for diagnosing inherited neuropathies. Advances in genetic technologies are improving diagnostic speed and efficiency for conditions like Charcot-Marie-Tooth disease.

Keywords:

Charcot−Marie−Tooth disease (CMT)DNA genetic counseling genetic testing hereditary motor and sensory neuropathy (HMSN)hereditary motor neuropathy (HMN)hereditary sensory and autonomic neuropathy (HSAN)multiplex ligation-dependent probe amplification (MLPA)polymerase chain reaction (PCR)

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Area of Science:

Genetics and Molecular Biology
Neurology
Medical Diagnostics

Background:

Inherited neuropathies represent a diverse group of disorders with significant recent advancements.
Molecular genetic testing has become essential for diagnosing patients with inherited neuropathies.

Purpose of the Study:

To detail genes responsible for primary inherited neuropathies.
To outline clinical phenotypes of inherited neuropathy subgroups.
To describe molecular genetic testing algorithms and genetic counseling for affected patients.

Main Methods:

Review of genes associated with primary inherited neuropathies.
Description of clinical phenotypes for various inherited neuropathy subgroups.
Presentation of molecular genetic testing strategies and genetic counseling principles.
Discussion of current and emerging genetic testing technologies, including high-throughput methods.

Main Results:

Established principles of phenotyping, family history documentation, and gene testing aid in diagnosing Charcot-Marie-Tooth types 1 and 2.
Current genetic testing methods are described, with a look towards future high-throughput technologies.

Conclusions:

Accurate phenotyping and genetic testing are vital for diagnosing inherited neuropathies.
Advancements in molecular genetics and bioinformatics promise more efficient diagnostic approaches.