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Repeat expansion disorders.

Zhongbo Chen1,2, Huw R Morris3, James Polke4

  • 1Department of Clinical and Movement Neuroscience, University College London Queen Square Institute of Neurology, London, UK zhongbo.chen@ucl.ac.uk mr2022@cam.ac.uk.

Practical Neurology
|September 30, 2024
PubMed
Summary
This summary is machine-generated.

Repeat expansion disorders are increasingly linked to neurological diseases like CANVAS. This review highlights their diagnostic challenges and collective management strategies for neurologists.

Keywords:
CEREBELLAR ATAXIAGENETICSMOLECULAR BIOLOGYNEUROGENETICS

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Repeat expansion disorders are a growing cause of rare and common neurological diseases.
  • Recent discoveries include novel expansions in CANVAS and spinocerebellar ataxia type 27B.
  • Over 60 repeat expansion disorders are known, primarily affecting neurological function.

Purpose of the Study:

  • To review the characteristics and diagnostic challenges of repeat expansion disorders for neurologists.
  • To emphasize the clinical heterogeneity and unifying causative mechanism of these disorders.
  • To discuss current genetic testing approaches and their clinical application.

Main Methods:

  • Literature review of repeat expansion disorders.
  • Analysis of clinical presentations and diagnostic features.
  • Discussion of genetic testing methodologies, including whole-genome sequencing.

Main Results:

  • Repeat expansion disorders present significant diagnostic challenges but offer management opportunities.
  • Commonalities in presentation and genetics support collective consideration of these diseases.
  • Clinical-grade whole-genome sequencing is becoming readily available for molecular diagnosis.

Conclusions:

  • Repeat expansion disorders represent a significant class of neurological diseases.
  • A collective approach to diagnosis and management is warranted due to shared mechanisms.
  • Advances in genetic sequencing facilitate improved molecular diagnosis and clinical practice.