Asystole in alternating hemiplegia with de novo ATP1A3 mutation

Nový, Jan; McWilliams, Eric; Sisodiya, Sanjay M.

doi:10.1016/j.ejmg.2013.11.003

Cited by 12 publications

(17 citation statements)

References 19 publications

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“…Its blockage with ouabain resulted in an aberrant activity of the cerebellum that alters basal ganglia function which in turn causes dystonia in mice , thus supporting the hypothesis of a constitutive role of the cerebellum in dystonia. ATP1A3 is also expressed in cardiomyocytes and atrioventricular node cells, which may explain the report of asystole as a striking feature in AHC .…”

Section: The Combined Dystoniasmentioning

confidence: 91%

“…It appears that treatment with flunarizine is beneficial in AHC and intermediate phenotypes, preventing paroxysmal worsening and motor deterioration; there have also been single cases of AHC with improvement on ketogenic diet . ATP1A3 mutations in RODP and AHC can be inherited in an autosomal dominant fashion but occur frequently de novo . Despite a considerable genotype−phenotype correlation, the wide phenotypic spectrum associated with a single mutation even in one family suggests that other factors (epigenetic, environmental) may modify the disease course .…”

Section: The Combined Dystoniasmentioning

confidence: 99%

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Isolated and combined dystonia syndromes – an update on new genes and their phenotypes

Balint

Bhatia

2015

Euro J of Neurology

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Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as ANO3, GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia. Conversely, the phenotype associated with TUBB4A mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations. Thus, new genes are being recognized for isolated dystonia, and the phenotype of known genes is broadening and now involves different combined dystonia syndromes.

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Section: The Combined Dystoniasmentioning

confidence: 91%

Section: The Combined Dystoniasmentioning

confidence: 99%

Isolated and combined dystonia syndromes – an update on new genes and their phenotypes

Balint

Bhatia

2015

Euro J of Neurology

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“…30 Repetitive brief asystole was documented in an individual with a confirmed ATP1A3 mutation and AHC. 31 Finally, as illustrated in table 5, 3 patients prospectively enrolled in the AHCF registry who died suddenly had documented evidence of cardiac structural abnormalities, including ventricular hypertrophy, on autopsy studies. In trying to understand and prevent sudden death in ATP1A3 -related neurologic disorders, it is important to create appropriate evidence-based recommendations regarding initial evaluation and long-term monitoring of cardiac status.…”

Section: Catastrophic Events In Atp1a3-related Disordersmentioning

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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“…Occasionally, autonomic dysfunction can occur in isolation ( Panagiotakaki et al , 2010 ). Recently, asystole associated with new-onset episodes of collapse with loss of consciousness, cyanosis and respiratory arrest was reported in a patient with genetically-confirmed alternating hemiplegia, benefitting from implantation of a permanent pacemaker ( Novy et al , 2014 ).…”

Section: Introductionmentioning

confidence: 99%

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

Jaffer

Avberšek

Vavassori³

et al. 2015

Brain

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Asystole in alternating hemiplegia with de novo ATP1A3 mutation

Cited by 12 publications

References 19 publications

Isolated and combined dystonia syndromes – an update on new genes and their phenotypes

Isolated and combined dystonia syndromes – an update on new genes and their phenotypes

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

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

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