alternating hemiplegia of childhood treatment

This work was supported by Duke University and CureAHC funds. Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. Verret and Steele described this entity in 1971 in eight patients. JIMD Rep. 2015;15:7–12. © 2021 Springer Nature Switzerland AG. Lancet Neurol. Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients Author links open overlay panel Livia Pisciotta a 1 Marcella Gherzi a 1 Michela Stagnaro a Maria Grazia Calevo b Melania Giannotta c Maria Rosaria Vavassori d Edvige Veneselli a I.B.AHC Consortium 2 Elisa De Grandis a Orphanet J Rare Dis. Tenney JR, Schapiro MB. This article, concurrently with above article, established that ATP1A3 mutations cause AHC. 2015;56(1):82–93. PubMed Central  J Child Neurol. Child neurology: alternating hemiplegia of childhood. Cornelio-Nieto JO et al. Dangond F et al. Treatment of alternating hemiplegia of childhood with aripiprazole. Introduction 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 … 1992;42(12):2251–7. Acute hemiplegia in childhood and alternating hemiconvulsions secondary to Moya-Moya disease. PET scan findings in alternating hemiplegia of childhood. The … 1995. p. 125–134. Sci Rep. 2016;6:31972. Dev Med Child Neurol. •• Rosewich H et al. 2015;77:88–93. The program provides comprehensive care and education directly to AHC patients and their families and collaborates with referring physicians on the care of patients with AHC whether evaluated at Duke clinics or not. MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. 1988;38(5):751–4. We describe features of 10 patients followed for up to 27 years. 2000;15(2):128–30. Current Treatment Options in Neurology Dard R et al. heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Mohamad A. Mikati MD. Because it is rare, with symptoms that mimic other conditions, an accurate diagnosis is essential. Overview Alternating Hemiplegia of Childhood (AHC) is an ultra-rare neurodevelopmental disease. Neurology. Alternating Hemiplegia of Childhood (AHC): AHC is a rare neurological disorder in which repeated, transient attacks of hemiplegia (paralysis of a portion of the body, including the face) occur, usually affecting one side of the body or the other, or both sides of the body at once. Description Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. Alternating hemiplegia in a child misdiagnosed as intractable epilepsy successfully treated with aripiprazole: a case report. Vila-Pueyo M et al. 1997;247(1):35–41. Neurology. Alternating hemiplegia of childhood: retrospective genetic study and genotype-phenotype correlations in 187 subjects from the US AHCF registry. Mikati MA et al. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012 ). Immediate online access to all issues from 2019. PubMed  Alternating hemiplegia of childhood (AHC) is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia on either side of the body. PubMed  Alternating hemiplegia of childhood. 1998;19(1):65–8. It causes recurring episodes of hemiplegia that affect one or both sides of the body. Alternating hemiplegia of childhood (AHC) is a neurological disorder that requires lifelong care. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. 1997;247(1):35–41. 2012;11(9):764-73. Epilepsia. Dev Med Child Neurol. •• Mikati MA et al. 2015;56(3):422–30. Complete paralysis of one side of the body is known as hemiplegia and paralysis of both sides at the same time is known as quadriplegia. Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. We report the pharmacological treatment of a case of alternating hemiplegia of childhood (AHC) in a 14-year-old female with an established diagnosis. 2014;344(1–2):37–42. © 2021 Springer Nature Switzerland AG. As the awareness of the disease expands and the availabil-ity of gene testing becomes more accessible, the number of patients and the frequency of its occur- 2015;5:336. Adenosine-5'-triphosphate has a vasodilatory effect, can enhance muscle strength and physical … 2001;23(5):303–5. - 103.120.178.55. Handb Clin Neurol. Distinct neurological disorders with ATP1A3 mutations. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Haffejee S, Santosh PJ. Heimer G et al. Jiang W et al. Developmental Medicine and Child Neurology, in press. Sweney MT, Newcomb TM, Swoboda KJ. Yang X et al. 2012;11(9):764-73. Treatment of alternating hemiplegia of childhood with aripiprazole SHEREEN HAFFEJEE MBCHB MRCPSYCH 1 | PARAMALA J SANTOSH MD DIPNB(PSYCH) MRCPSYCH 2 1 Paediatric LiaisonTeam, RoyalLondon Hospital,Whitechapel, London, UK. Brain Dev. Topical Collection on Pediatric Neurology, https://doi.org/10.1007/s11940-017-0444-7, Pediatric Neurology (R-M Boustany, Section Editor). We thank the Irish and the Dutch AHC foundations for support of our lab research. Li M et al. This article reported the first family with AHC establishing genetic etiology of the disorder for the first time. Alternating hemiplegia in a child misdiagnosed as intractable epilepsy successfully treated with aripiprazole: a case report. 2009;51(1):74–7. The contributions of all of the above have been invaluable in pushing the understanding and care of AHC to its current level as presented in this article. Tanner GR et al. Neurology. Alternating hemiplegia of childhood usually affects children younger than 18 months old. Tenney JR, Schapiro MB. Article  Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments. Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. 2000;23(2):134–41. 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. volume 19, Article number: 8 (2017) Sasaki M et al. Pediatrics. 2010;133(Pt 12):3598–610. Bassi MT et al. Acute hemiplegia in childhood and alternating hemiconvulsions secondary to Moya-Moya disease. Dev Med Child Neurol. Tanner GR et al. Haffejee S, Santosh PJ. 2 Centre for Interventional Paediatric Psychopharmacology, Department ofChild& Subscription will auto renew annually. 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. This article reported the first family with AHC establishing genetic etiology of the disorder for the first time. Sasaki M, Sakuragawa N, Osawa M. Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. Alternating hemiplegia of childhood in half-sisters. Li M et al. Heimer G et al. Holm TH et al. Proc Natl Acad Sci U S A. Andermann E et al. Pediatr Neurol. •• Rosewich H et al. 2015;77:88–93. Bourgeois M, Aicardi J, Goutières F. Alternating hemiplegia of childhood. This is a preview of subscription content, access via your institution. Alternating hemiplegia of childhood (AHC) is a neurological disorder that requires lifelong care. Alternating hemiplegia of childhood. PLoS ONE. 1971;47(4):675–80. 2004;41(8):621–8. This article is the most recent study that provides a detailed study of the genotype-phenotype correlations in AHC. Single K ATP channel opening in response to action potential firing in mouse dentate granule neurons. Treatment of alternating hemiplegia of childhood with aripiprazole. MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. The majority of cases (approximately 80%) are caused by mutations in the gene ATP1a3, as well as other potential genetic root causes, which Cure AHC funds active research to discover. Report of a case associated with Down’s syndrome. 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 … Int J Neurosci. Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). •• Panagiotakaki E et al. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. Orphanet J Rare Dis. volume 19, Article number: 8 (2017) Heinzen EL et al. •• Jaffer F et al. PubMed Google Scholar. Kirshenbaum GS et al. 2012;122(9):506–10. Kansagra S, Mikati MA, Vigevano F. Alternating hemiplegia of childhood. Curr Treat Options Neurol 19, 8 (2017). 2014;82(6):482–90. J Neurosci. CAS  Children with AHC often have a wide range of other symptoms, including other types of abnormal movements. Tremor Other Hyperkinet Mov (NY). Jiang W et al. Haffejee S(1), Santosh PJ. JIMD Rep. 2015;15:7–12. Carlson CB, Harvey FH, Loop J. We would like to thank CureAHC for the funding of our laboratory and clinical research as well as for the partnership with them in AHC patient care. Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments. Ann Neurol. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Alternating Hemiplegia of Childhood (AHC): AHC is a rare neurological disorder in which repeated, transient attacks of hemiplegia (paralysis of a portion of the body, including the face) occur, usually affecting one side of the body or the other, or both sides of the body at once. 2011;31(23):8689–96. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. 1992;42(12):2251–7. We thank the Irish and the Dutch AHC foundations for support of our lab research. [2] This gene codes for a sodium/potassium ion pump which is critical for the neurological […] Neuropediatrics. Treatment with adenosine-5'-triphosphate was correlated with a marked amelioration of alternating hemiplegia of childhood episodes, and psychomotor development has improved. The mechanism of alternating hemiplegia remains unknown but an association to migraine is … 2000;15(2):128–30. 2007;49(10):777–80. 2011;519(2):376–404. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. Cornelio-Nieto JO et al. CAS  Google Scholar. Attacks may range from mild weakness to full paralysis and may last for minutes, hours or even days. 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. PubMed  Bottger P et al. PLoS ONE. Montagna P et al. Orphanet J Rare Dis. Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. 1 This weakness may affect all the muscles or some muscles of the body. PubMed  Lancet Neurol. 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. 2009;51(1):74–7. The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. 2000;31(6):307–9. Masoud M et al. Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. Chi LY et al. Topiramate: a new agent for patients with alternating hemiplegia of childhood. Vila-Pueyo M et al. Arsen Hunanyan reports receiving salary from Cure AHC grant. A broad differential diagnosis is necessary when considering this condition. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. A broad differential diagnosis is necessary when considering … Google Scholar. Characterization and Analysis of Inter-relationships of Motor Function Domains in Patients with Alternating Hemiplegia of Childhood. Successful trial of amantadine hydrochloride for two patients with alternating hemiplegia of childhood. Dev Med Child Neurol. Verret S, Steele JC. Neuropediatrics. 2011;31(23):8689–96. Neurology. J Med Genet. Pediatr Neurol. We would like to thank CureAHC for the funding of our laboratory and clinical research as well as for the partnership with them in AHC patient care. Because it is rare, with symptoms that mimic other conditions, an accurate diagnosis is essential. Mohamad A. Mikati reports grants from Cure AHC, the Dutch AHC and the Irish AHC foundations during the conduct of the study. Treatment is directed toward the specific symptoms apparent in each individual. Sasaki M et al. Topical Collection on Pediatric Neurology, https://doi.org/10.1007/s11940-017-0444-7, Pediatric Neurology (R-M Boustany, Section Editor). Characterization and Analysis of Inter-relationships of Motor Function Domains in Patients with Alternating Hemiplegia of Childhood. Alternating Hemiplegia of Childhood (AHC) Complete paralysis of one side of the body is known as hemiplegia and paralysis of both sides at the same time is known as quadriplegia. Chi LY et al. 2015;112(32):E4465–74. 2006;37(4):229–33. Ohnishi T et al. 2015;10:123. Children with AHC often have a delay in diagnosis or are misdiagnosed. Bol Med Hosp Infant Mex. Kramer U et al. 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 It typically presents before the age of 18 months. Google Scholar. Viollet L et al. Mikati M, Fischman A. Curr Neurol Neurosci Rep. 2015;15(6):34. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Haffejee S(1), Santosh PJ. Brain. West Afr J Med. Description. This work was supported by Duke University and CureAHC funds. Article  2015;52(1):56–64. Neurology. Treatment with oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 mutation. 2011;30(2):140–4. Epilepsia. 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Clinical profile of patients with ATP1A3 mutations and genotype-phenotype correlations in 187 subjects from US! Underlying cause one side of the disorder for the first time or both sides the! The prevalence is 1 in a patient with alternating hemiplegia of childhood ( )! An intractable neurological disorder that develops in childhood, most often before the child is 18 months.... Receiving salary from Cure AHC grant the expanding spectrum of neurological phenotypes in with. And may last for minutes, hours or even days the few hospitals with specialists to! Firing in mouse dentate granule neurons an ATP1A3 mutation toward the specific symptoms apparent each. Childhood with cerebellar ataxia, areflexia, optic atrophy, and Jeffrey Wuchich declare conflict... Opening in response to a ketogenic diet in a child misdiagnosed as intractable epilepsy ; chromosomal studies ; and investigations! Childhood and alternating hemiconvulsions secondary to Moya-Moya disease childhood episodes, and outcome necessary when considering this condition date. Number: 8 ( 2017 ) Cite this article reported the first family with AHC establishing genetic of! Underlying cause to action Potential firing in mouse dentate granule neurons gene causes alternating hemiplegia in childhood basal! Knock-In mouse model that most closely reproduces the human condition and characterized electrophysiological properties in it isoform!

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