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[PRRT2 gene-related paroxysmal disorders]

Jin Li1, Xiao Mao, Junling Wang

  • 1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R.China. bstang7398@163.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|October 10, 2014
PubMed

Insights

Proline-rich transmembrane protein 2 (PRRT2) gene mutations cause various neurological disorders like paroxysmal kinesigenic dyskinesias. We propose naming these PRRT2-related paroxysmal disorders (PRPDs) for better diagnosis and treatment.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Context:

  • Proline-rich transmembrane protein 2 (PRRT2) is implicated in several neurological disorders.
  • Existing classifications for PRRT2-related conditions lack uniformity.
  • Understanding the genetic basis of these disorders is crucial for clinical management.

Purpose:

  • To propose a unified nomenclature for disorders caused by PRRT2 gene defects.
  • To review the clinical phenotypes, common features, and pathogenesis of these disorders.
  • To facilitate improved clinical diagnosis, treatment, and prognosis.

Summary:

  • PRRT2 mutations are the underlying cause of paroxysmal kinesigenic dyskinesias (PKD), benign familial infantile seizures (BFIS), and infantile convulsions with paroxysmal choreoathetosis (ICCA).
  • These distinct clinical entities share common characteristics suggesting a shared genetic etiology.
  • The proposed term PRRT2-related paroxysmal disorders (PRPDs) encompasses these conditions.

Impact:

  • Establishing a unified name (PRPDs) aids in clinical recognition and diagnosis.
  • This review consolidates knowledge on PRRT2-related disorders, aiding treatment strategies.
  • Understanding the pathogenesis of PRRT2 mutations offers insights into neuronal function and dysfunction.

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