Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status

European Journal of Paediatric Neurology

Volumn 18, Issue 1, 2014, Pages 50-54

  Hoei Hansen, Christina E ^a   Dali, Christine Í ^b   Lyngbye, Troels J B ^c   Duno, Morten ^b   Uldall, Peter ^b  

^a HILLERØD HOSPITAL   (Denmark)

^b Rigshospitalet   (Denmark)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Alternating hemiplegia in childhood; Child; Genetic testing; Mutation; Prevalence

Indexed keywords

ANTICONVULSIVE AGENT; ASPARAGINE; FLUNARIZINE; FLUORODEOXYGLUCOSE F 18;

ADOLESCENT; ALTERNATING HEMIPLEGIA OF CHILDHOOD; ANTICONVULSANT THERAPY; ARNOLD CHIARI MALFORMATION; ARTICLE; ATROPHY; ATTENTION DEFICIT DISORDER; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; COHORT ANALYSIS; DENMARK; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC STATE; EYE MOVEMENT DISORDER; FAILURE TO THRIVE; FEMALE; GENE MUTATION; HEMIPLEGIA; HETEROZYGOTE; HUMAN; IMPULSIVENESS; MALE; MONOZYGOTIC TWINS; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PARIETAL LOBE; POSITRON EMISSION TOMOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SCLEROSIS; SYRINGOMYELIA; TEMPORAL LOBE;

ADHD; AHC; ALTERNATING HEMIPLEGIA IN CHILDHOOD; ALTERNATING HEMIPLEGIA OF CHILDHOOD; ATTENTION DEFICIT/HYPERACTIVITY DISORDER; ATYP; ATYPICAL CASE; CHILD; DEOXYRIBONUCLEIC ACID; DNA; DYSTONIA 12; DYT12; EDTA; EEG; ELECTROENCEPHALOGRAPHY; ETHYLENEDIAMINETETRAACETIC ACID; GENETIC TESTING; MUTATION; NA; ND; NO MUTATION DETECTED; NOT ANALYSED; PCR; POLYMERASE CHAIN REACTION; PREVALENCE; TYP; TYPICAL CASE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COMORBIDITY; DENMARK; ELECTROENCEPHALOGRAPHY; FEMALE; GENETIC TESTING; HEMIPLEGIA; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION; PREVALENCE; SEVERITY OF ILLNESS INDEX; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 84892533277     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2013.08.007     Document Type: Article

References (26)

1. S. Verret, and J.C. Steele Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy Pediatrics 47 1971 675 680
2. B.G. Neville, and M. Ninan The treatment and management of alternating hemiplegia of childhood Dev Med Child Neurol 49 2007 777 780
3. J.R. Tenney, and M.B. Schapiro Child neurology: alternating hemiplegia of childhood Neurology 74 2010 e57 e59
4. M. Sasaki, N. Sakuragawa, and M. Osawa Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan Brain Dev 23 2001 303 305
5. E.L. Heinzen, K.J. Swoboda, and Y. Hitomi et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood Nat Genet 44 2012 1030 1034
6. H. Rosewich, H. Thiele, and A. Ohlenbusch et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study Lancet Neurol 11 2012 764 773
7. C. Fons, J. Campistol, and E. Panagiotakaki et al. Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients Eur J Paediatr Neurol 16 2012 10 14
8. A. Ishii, Y. Saito, and J. Mitsui et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients PLoS One 8 2013 e56120
9. M. Dobretsov, and J.R. Stimers Neuronal function and alpha3 isoform of the Na/K-ATPase Front Biosci 10 2005 2373 2396
10. J.B. Lingrel, M.T. Williams, C.V. Vorhees, and A.E. Moseley Na, K-ATPase and the role of alpha isoforms in behaviour J Bioenerg Biomembr 39 2007 385 389
11. P. De Carvalho Aguiar, K.J. Sweadner, and J.T. Penniston et al. Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism Neuron 43 2004 169 175
12. I.A. Anselm, K.J. Sweadner, S. Gollamudi, L.J. Ozelius, and B.T. Darras Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation Neurology 73 2009 400 401
13. P. Blanco-Arias, A.P. Einholm, and H. Mamsa et al. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism Hum Mol Genet 18 2009 2370 2377
14. A. Brashear, J.W. Mink, and D.F. Hill et al. ATP1A3 mutations in infants: a new rapid-onset dystonia-parkinsonism phenotype characterised by motor delay and ataxia Dev Med Child Neurol 54 2012 1065 1067
15. I. Krageloh, and J. Aicardi Alternating hemiplegia in infants: report of five cases Dev Med Child Neurol 22 1980 784 791
16. M. Bourgeois, J. Aicardi, and F. Goutiéres Alternating hemiplegia of childhood J Pediatr 122 1993 673 679
17. M.T. Sweney, K. Silver, and M. Gerard-Blanluet et al. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome Pediatrics 123 2009 e534 e541
18. Statistics Denmark: www.dst.dk/da/Statistik.
19. M. Sasaki, H. Sakuma, A. Fukushima, K. Yamada, T. Ohnishi, and H. Matsuda Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood Brain Dev 31 2009 20 26
20. M.A. Mikati, U. Kramer, M.L. Zupanc, and R.J. Shanahan Alternating hemiplegia of childhood: clinical manifestations and long-term outcome Pediatr Neurol 23 2000 134 141
21. E. Panagiotakaki, G. Gobbi, and B. Neville et al. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults Brain 133 2010 3598 3610
22. V. Chaves-Vischer, F. Picard, E. Andermann, B. Dalla Bernardina, and F. Andermann Benign nocturnal alternating hemiplegia of childhood: six patients and long-term follow-up Neurology 57 2001 1491 1493
23. F. Villéga, F. Picard, C. Espil-Taris, M. Husson, V. Michel, and J.M. Pedespan Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution Brain Dev 33 2011 525 529
24. L.J.J.C. Wagener-Schimmel, and J. Nicolai Child neurology: benign nocturnal alternating hemiplegia of childhood Neurology 79 2012 e161 e163
25. M.P. DeAndrade, F. Yokoi, T. van Groen, J.B. Lingrel, and Y. Li Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism Behav Brain Res 216 2011 659 665
26. S.J. Clapcote, S. Duffy, and G. Xie et al. Muatation I810N in the alpha3 isoform of Na+, K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS Proc Natl Acad Sci U S A 106 2009 14085 14090