Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and … J Child Neurol. Because it is rare, with symptoms that mimic other conditions, an accurate diagnosis is essential. Alternating hemiplegia of childhood. Wong VC, Kwong AK. 2015;52(1):56–64. Successful trial of amantadine hydrochloride for two patients with alternating hemiplegia of childhood. Topical Collection on Pediatric Neurology, https://doi.org/10.1007/s11940-017-0444-7, Pediatric Neurology (R-M Boustany, Section Editor). Int J Neurosci. Subscription will auto renew annually. 2010;74(14):e57–9. Single K ATP channel opening in response to action potential firing in mouse dentate granule neurons. PubMed Google Scholar. CAS  2010;74(14):e57–9. 2015;10(5):e0127045. Google Scholar. Holm TH et al. Learn more about Institutional subscriptions. An example of such an approach is that of The Duke AHC and Related Disorders Multi-Disciplinary Clinic and Program, which, in partnership with the Cure AHC Foundation, has developed and applied this approach to patients seen since early 2013. J Child Neurol. Topiramate: a new agent for patients with alternating hemiplegia of childhood. 2000;31(6):307–9. Focal brain dysfunction in a 41-year old man with familial alternating hemiplegia. Dard R et al. Successful trial of amantadine hydrochloride for two patients with alternating hemiplegia of childhood. Panagiotakaki E et al. Neville BG, Ninan M. The treatment and management of alternating hemiplegia of childhood. PLoS ONE. Subscription will auto renew annually. Alternating Hemiplegia of Childhood (AHC) is a rare neurodevelopmental disorder, affecting approx-imately 1 in 1,000,000 children [1], and was first described by Verret and Steele in 1971 [2]. Alternating Hemiplegia is a rare pathological condition of the musculoskeletal system in which a child has episodes of severe weakness affecting one side of the body. This article does not contain any studies with human or animal subjects performed by any of the authors. Pledger GW et al. It typically presents before the age of 18 months. Brain Dev. Description Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. Tax calculation will be finalised during checkout. Immediate online access to all issues from 2019. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Progressive alternating hemiplegia in early childhood and basal arterial stenosis and telangiectasia (moyamoya syndrome). This article does not contain any studies with human or animal subjects performed by any of the authors. This study established that AHC in the majority of patients is caused by mutations of the ATP1A3 gene and that such mutations cause loss of function of enzyme activity without reducing the expression of that protein. Epilepsia. CAOS-episodic cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss: a third allelic disorder of the ATP1A3 gene. Wong VC, Kwong AK. 1971;47(4):675–80. CAS  AHC (Alternating Hemiplegia of Childhood) is a complex, ultra-rare neurological disease. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. Haffejee S(1), Santosh PJ. Chi LY et al. Brain Dev. Alternating Hemiplegia of Childhood Foundation 2000 Town Center Suite 1900 Southfield, MI 48075 (313) 663-7772 Paciorkowski AR et al. Single K ATP channel opening in response to action potential firing in mouse dentate granule neurons. Intermediate phenotypes of ATP1A3 mutations: phenotype-genotype correlations. Learn more about Institutional subscriptions. 2015;10(5):e0127045. The disorder is characterized by recurrent episodes of paralysis on one side of the body. Orphanet J Rare Dis. Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. CAS  Alternating hemiplegia of childhood in half-sisters. Kramer U et al. It also is involved in clinical and basic research and in collaborations with other International AHC Research Consortium (IAHCRC) partners. Orphanet J Rare Dis. Pediatr Neurol. Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments. Vila-Pueyo M et al. 2012;44(9):1030–4. Alternating hemiplegia in a child misdiagnosed as intractable epilepsy successfully treated with aripiprazole: a case report. Curr Treat Options Neurol 19, 8 (2017). 2011;30(2):140–4. Handb Clin Neurol. Distinct neurological disorders with ATP1A3 mutations. This article, concurrently with above article, established that ATP1A3 mutations cause AHC. Pledger GW et al. Masoud M et al. This article is part of the Topical Collection on Pediatric Neurology, Masoud, M., Prange, L., Wuchich, J. et al. Paciorkowski AR et al. Li M et al. Heimer G et al. Viollet L et al. Brain. 2015;57(12):1183–6. 2015;77:88–93. •• Jaffer F et al. 2014;13(5):503–14. Google Scholar. Curr Treat Options Neurol 19, 8 (2017). Bourgeois M, Aicardi J, Goutières F. Alternating hemiplegia of childhood. 2014;9:15. We also would like to thank Melissa McLean, the Program research coordinator, the Iceland AHC Foundation, and all members of AHC and Related Disorders Multidisciplinary Clinic and Program at Duke as well as our partners in the International AHC Research Consortium (IAHCRC) and other researchers in the field. © 2021 Springer Nature Switzerland AG. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients. Alternating hemiplegia of childhood is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia on either side of the body and other paroxysmal events such as seizures, dystonia, tonic episodes, abnormal eye movements or autonomic dysfunction, primarily due to de novo pathogenic mutations in the ATP1A3 gene. Diagnosis and Treatment of Alternating Hemiplegia of Childhood. Alternating hemiplegia of childhood treatment No specific therapy exists for individuals with alternating hemiplegia of childhood. 2012;11(9):764-73. A novel ATP1A2 mutation. JIMD Rep. 2015;15:7–12. 2007;49(10):777–80. Nat Genet. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. Flunarizine for treatment of partial seizures: results of a concentration-controlled trial. Treatment of alternating hemiplegia of childhood with aripiprazole. We describe features of 10 patients followed for up to 27 years. Bol Med Hosp Infant Mex. PubMed  Bol Med Hosp Infant Mex. PubMed  Neurology. Classic AHC causes recurrent episodes of paralysis () that involve one or both sides of the body, multiple limbs, or a single limb. We also would like to thank Melissa McLean, the Program research coordinator, the Iceland AHC Foundation, and all members of AHC and Related Disorders Multidisciplinary Clinic and Program at Duke as well as our partners in the International AHC Research Consortium (IAHCRC) and other researchers in the field. Brain. Tremor Other Hyperkinet Mov (NY). Flunarizine for treatment of partial seizures: results of a concentration-controlled trial. 2014;344(1–2):37–42. Neurobiol Dis. Melanie Masoud, Lyndsey Prange, and Jeffrey Wuchich declare no conflict of interest. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. Neville BG, Ninan M. The treatment and management of alternating hemiplegia of childhood. Mohamad A. Mikati reports grants from Cure AHC, the Dutch AHC and the Irish AHC foundations during the conduct of the study. Neuropediatrics. Neurobiol Dis. Mohamad A. Mikati MD. Developmental Medicine and Child Neurology, in press. Author information: (1)Paediatric Liaison Team, Royal London Hospital, Whitechapel, London, … Pediatrics. Pediatr Neurol. This is a preview of subscription content, access via your institution. Mikati MA et al. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. Duke University Children Health Center, 2301 Erwin Rd., Durham, NC, 27710, USA, Melanie Masoud BA, Lyndsey Prange CPNP, Arsen Hunanyan PhD & Mohamad A. Mikati MD, Cure AHC, Inc., 545 Irina Drive, Rolesville, NC, 27571, USA, You can also search for this author in 2 Centre for Interventional Paediatric Psychopharmacology, Department ofChild& J Pediatr. 1973;23(7):734–44. Eur Arch Psychiatry Clin Neurosci. Characterization and Analysis of Inter-relationships of Motor Function Domains in Patients with Alternating Hemiplegia of Childhood. J Med Genet. PLoS ONE. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 1992;42(12):2251–7. Curr Neurol Neurosci Rep. 2015;15(6):34. This article is the most recent study that provides a detailed study of the genotype-phenotype correlations in AHC. Masoud M et al. Progressive alternating hemiplegia in early childhood and basal arterial stenosis and telangiectasia (moyamoya syndrome). 1 This weakness may affect all the muscles or some muscles of the body. Neurology. A broad differential diagnosis is necessary when considering this condition. 2015;30(13):1749–56. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Dev Med Child Neurol. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. 1994;44(10):1830–6. PET scan findings in alternating hemiplegia of childhood. J Neurosci. Alternating hemiplegia of childhood is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia on either side of the body and other paroxysmal events such as seizures, dystonia, tonic episodes, abnormal eye movements or autonomic dysfunction, primarily due to … [1] A groundbreaking discovery in 2012 highlighted that the ATP1A3 gene causes approximately 70-80% of cases. Correspondence to ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment? Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. Description. Article  Kirshenbaum GS et al. 2015;56(3):422–30. 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