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Paroxysmal Movement Disorders.

Susan Harvey1, Mary D King1,2, Kathleen M Gorman1,2

  • 1Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.

Frontiers in Neurology
|June 28, 2021
PubMed
Summary
This summary is machine-generated.

Paroxysmal movement disorders (PxMDs) are episodic involuntary movements. Next-generation sequencing advances genetic diagnosis, but challenges remain, necessitating further genomic research for improved patient care.

Keywords:
episodic ataxiageneticsnext-generation sequencingparoxysmal dyskinesiaparoxysmal movement disorders

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Area of Science:

  • Neurogenetics
  • Genomic Medicine
  • Movement Disorders

Background:

  • Paroxysmal movement disorders (PxMDs) are a diverse group of conditions marked by episodic involuntary movements.
  • Historically, clinical classification guided single-gene testing, but genetic heterogeneity and phenotypic pleiotropy complicate diagnosis.
  • Next-generation sequencing (NGS) has revolutionized PxMD research, enabling new gene discoveries and a deeper understanding of disease mechanisms.

Purpose of the Study:

  • To provide an updated overview of the genetics of PxMDs.
  • To reclassify PxMDs based on causative genes rather than clinical phenotypes.
  • To present an updated algorithm for genetic testing in PxMDs.

Main Methods:

  • Review of recent advancements in PxMD genetics, including new gene discoveries and expanded phenotypes.
  • Analysis of the impact of NGS technologies on PxMD classification and investigation.
  • Development of a gene-centric classification and diagnostic algorithm for PxMDs.

Main Results:

  • NGS has identified novel genes (e.g., RHOBTB2, TBC1D24) and expanded known PxMD gene phenotypes.
  • PxMD diagnosis rates with current NGS methods vary (11-51%), indicating a need for improved diagnostic strategies.
  • Clinical phenotype alone is insufficient for accurate genotype prediction due to genetic heterogeneity.

Conclusions:

  • Further genomic research, including whole-genome sequencing and advanced variant detection, is crucial to improve PxMD diagnostic rates.
  • A gene-centric classification and updated genetic testing algorithm can aid in diagnosing PxMDs.
  • Identifying the genetic cause significantly impacts patient management, treatment, prognostication, and genetic counseling.