[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]

Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24.
[Article in Spanish]

Abstract

Background and objective: Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC.

Patients and method: It is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified.

Results: Six heterozygous, de novo mutations were found in the ATP1A3 gene. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients (18.75%), G2893A in 2 patients (12.50%) and C2781G, G2893C and C2411T in one patient, respectively (6.25% each).

Conclusions: In the studied population with AHC, de novo mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series.

Keywords: ATP1A3 gen; Alternating hemiplegia of childhood; Bomba de sodio-potasio de trifosfato de adenosina; Gen ATP1A3; Hemiplejía alternante de la infancia; Sodium-potassium adenosine triphosphatase pump.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Diet, Ketogenic
  • Dystonic Disorders / diet therapy
  • Dystonic Disorders / genetics*
  • Female
  • Glutamate Plasma Membrane Transport Proteins / genetics
  • Hemiplegia / diet therapy
  • Hemiplegia / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mutation, Missense*
  • Ocular Motility Disorders / diet therapy
  • Ocular Motility Disorders / genetics*
  • Point Mutation*
  • Retrospective Studies
  • Sodium-Potassium-Exchanging ATPase / genetics*
  • Sodium-Potassium-Exchanging ATPase / physiology
  • Spain
  • Young Adult

Substances

  • ATP1A3 protein, human
  • Glutamate Plasma Membrane Transport Proteins
  • SLC1A2 protein, human
  • Sodium-Potassium-Exchanging ATPase

Supplementary concepts

  • Alternating hemiplegia of childhood