Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation

Abstract

Background: Alternating hemiplegia of childhood is an intractable neurological disorder characterized by recurrent episodes of alternating hemiplegia accompanied by other paroxysmal symptoms. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. Adenosine-5'-triphosphate has a vasodilatory effect, can enhance muscle strength and physical performance, and was hypothesized to improve the symptoms of paroxysmal hemiplegia.

Methods: A 7-year-old boy with alternating hemiplegia of childhood who was positive for a de novo ATP1A3 mutation was treated with adenosine- 5'- triphosphate supplementation orally as an innovative therapy for 2 years. Outcome was evaluated through the follow-up of improvement of hemiplegic episodes and psychomotor development. Side effects and safety were monitored in regularity.

Results: With the dosage of adenosine-5'-triphosphate administration increased, the patient showed significantly less frequency and shorter duration of hemiplegic episodes. Treatment with adenosine-5'-triphosphate was correlated with a marked amelioration of alternating hemiplegia of childhood episodes, and psychomotor development has improved. The maximum dose of oral administration of adenosine-5'-triphosphate reached 25 mg/kg per day. Adenosine-5'-triphosphate therapy was well tolerated without complaint of discomfort and side effects.

Conclusions: The 2-year follow-up outcome of adenosine-5'-triphosphate therapy for alternating hemiplegia of childhood was successful.

Keywords: AHC; Epilepsy; Migraine.

Fig. 1

Chromatograms of the de novo ATP1A3 mutation. Data were obtained by Sanger sequencing during the confirmation process. The black square represents the proband. Black solid lines indicate exonic nucleotide sequences, and blue dotted lines indicate intronic nucleotide sequences. A mutation (c.2542 + 1 G > A) in intron 18 was identified in this patient

Fig. 2

Daily frequency of alternating hemiplegia episodes at different ATP dosages. The numbers of hemiplegic episodes at different ATP administration are noted. As the ATP dosage increased, the patient experienced markedly fewer hemiplegic episodes