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01.12.2016 | Research | Ausgabe 1/2016 Open Access

Orphanet Journal of Rare Diseases 1/2016

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

Orphanet Journal of Rare Diseases > Ausgabe 1/2016
Jun Ju, Shinichi Hirose, Xiu-Yu Shi, Atsushi Ishii, Lin-Yan Hu, Li-Ping Zou
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​s13023-016-0438-7) contains supplementary material, which is available to authorized users.
Jun Ju and Shinichi Hirose are co-first authors.

Competing interests

None of the authors has any potential conflicts of interests.

Authors’ contributions

L-PZ conceived the study idea and performed patient follow-up. SH conceived the study idea and revised the manuscript. JJ performed patient follow-up, and wrote and edited significant portions of the manuscript. X-YS wrote the discussion section and revised the manuscript. AI performed the genetic analysis. L-YH was involved in the initial treatment planning and edited the manuscript. All authors read and approved the final manuscript.



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.


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.


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.


The 2-year follow-up outcome of adenosine-5'-triphosphate therapy for alternating hemiplegia of childhood was successful.
Additional file 1: Video 1.
This video was recorded in June 2011, at that time the patient was at age of 3.5 years and first seen at the Department of Pediatrics in Chinese PLA General Hospital. He frequently experienced right-sided hemiplegia with an unsteady gait and was prone to falling. (MOV 18913 kb)
Additional file 2: Video 2.
This video was recorded in December 2014. After treatment of ATP, this patient’s hemiplegic episodes were markedly reduced, the patient showed noticeable improvements in balance and fine motor coordination. (MOV 71448 kb)
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