[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]
Adriana Ulate-Campos1, Carmen Fons2, Jaume Campistol2
1Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Déu, Barcelona, España.
Insights
De novo mutations in the ATP1A3 gene cause Alternating Hemiplegia of Childhood (AHC). This study identified six unique mutations in 16 AHC patients, confirming ATP1A3 as the primary genetic cause.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder.
- AHC presents with recurrent hemiplegic episodes, dystonic crises, and abnormal eye movements.
- Mutations in the ATP1A3 gene are the established cause of AHC.
Purpose of the Study:
- To characterize the clinical and genetic findings in a cohort of 16 patients diagnosed with AHC.
- To identify and describe the specific ATP1A3 gene mutations present in these patients.
Main Methods:
- A descriptive, retrospective, multicenter study design was employed.
- Patients included had a clinical diagnosis of AHC and confirmed ATP1A3 mutations.
- Genetic analysis focused on identifying heterozygous, de novo mutations within the ATP1A3 gene.
Main Results:
- Six distinct heterozygous, de novo mutations in the ATP1A3 gene were identified.
- The G2401A mutation was the most prevalent, found in 8 patients (50%).
- Other identified mutations included G2443A (18.75%), G2893A (12.50%), and C2781G, G2893C, C2411T (6.25% each).
Conclusions:
- De novo mutations in the ATP1A3 gene were present in 100% of the studied AHC patients.
- The most frequent mutations observed were D801N and E815K, consistent with findings in other patient series.
- This study reinforces the critical role of ATP1A3 mutations in the pathogenesis of AHC.
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.
