Alternating Hemiplegia of Childhood in Chinese Following Long-Term Treatment With Flunarizine or Topiramate

L, Chi; Zhao, Xiuhe; Liu, Xuewu; Jiang, Wenjing; Chi, Zhen‐Ming; Wang, Shengjun

doi:10.3109/00207454.2012.683216

Cited by 19 publications

(7 citation statements)

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“…There is no specific treatment for ATP1A3 -related diseases other than symptomatic, although flunarizine is widely used. 36,37 There is no approved medication or device that alters the underlying deficit in the Na + /K + pump.…”

Section: Discussion and Future Directionsmentioning

confidence: 99%

Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders

et al. 2017

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Objective:ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism.Methods:In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders.Results:Workshop attendees were charged with the following: (1) to achieve consensus on expanded diagnostic criteria to facilitate the identification of additional patients, intended to supplement existing syndrome-specific diagnostic paradigms; (2) to standardize definitions for the broad range of paroxysmal manifestations associated with AHC to disseminate to families; (3) to create clinical recommendations for common recurrent issues facing families and medical care providers; (4) to review data related to the death of individuals in the Alternating Hemiplegia of Childhood Foundation database to guide future efforts in identifying at-risk subjects and potential preventative measures; and (5) to identify critical gaps where we most need to focus national and international research efforts.Conclusions:This report summarizes recommendations of the workshop committee, highlighting the key phenotypic features to facilitate the diagnosis of possible ATP1A3 mutations, providing recommendations for genetic testing, and outlining initial acute management for common recurrent clinical conditions, including epilepsy.

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Section: Discussion and Future Directionsmentioning

confidence: 99%

Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders

et al. 2017

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“…Acetazolamide, a carbonic anhydrase inhibitor, and flunarizine, a non-selective calcium receptor inhibitor, have been demonstrated to reduce the severity and frequency of hemiplegic attacks in patients with AHC (Camfield & Andermann, 2006; Chi et al, 2012). Acetazolamide has also been previously reported to prevent ataxic episodes in two patients with CAPOS syndrome, although these treatment efficacies have not been systematically studied (Maas et al, 2016).…”

Section: | Discussionmentioning

confidence: 99%

Novel pregnancy‐triggered episodes of CAPOS syndrome

Chang

Adam

Jayadev

et al. 2017

American J of Med Genetics Pt A

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Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na /K ATPase α3. We describe a large CAPOS pedigree with three generations of affected members, the first ascertained in the United States. Deafness, optic atrophy, and pes cavus were present in all three members of the family evaluated. In addition, one of the affected individuals experienced markedly worsening features during her three pregnancies and in the immediate postpartum period, a potential element of the natural history of CAPOS previously unreported. We conclude that the triggering factors and clinical spectrum of pathogenic ATP1A3 variants may be broader than previously described. Targeted sequencing of ATP1A3 should be considered in any patient presenting with cerebellar ataxia triggered by febrile illness, or pregnancy and delivery, especially in the presence of sensorineural hearing loss, optic atrophy, pes cavus, or early childhood history of acute encephalopathic ataxia. Prophylactic administration of acetazolamide or flunarizine may prevent acute episodes of ataxia or mitigate neurologic symptoms, although their efficacies have not been well studied.

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“…69,70 Like flunarizine, reports of benefit have been largely anecdotal. 16 It too blocks voltage-dependent Na + channels; in addition, it is an antagonist of non-N-methyl D-aspartate glutamate and calcium channel receptors and is a carbonic anhydrase inhibitor.…”

Section: Treatmentmentioning

confidence: 99%

The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

Sweney

Newcomb

Swoboda

2015

Pediatric Neurology

133

114

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Alternating Hemiplegia of Childhood in Chinese Following Long-Term Treatment With Flunarizine or Topiramate

Abstract: The findings from the present study support flunarizine or topitamate as the rational treatment for AHC.

Cited by 19 publications

References 13 publications

Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders

Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders

Novel pregnancy‐triggered episodes of CAPOS syndrome

The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

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