Eye movement disorders are an early manifestation of CACNA1A mutations in children

Developmental Medicine and Child Neurology

Volumn 58, Issue 6, 2016, Pages 639-644

  Tantsis, Esther M ^a   Gill, Deepak ^a   Griffiths, Lyn ^b   Gupta, Sachin ^a   Lawson, John ^c   Maksemous, Neven ^b   Ouvrier, Robert ^a   Riant, Florence ^d   Smith, Robert ^b   Troedson, Christopher ^a   Webster, Richard ^a   Menezes, Manoj P ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b QUEENSLAND UNIVERSITY OF TECHNOLOGY   (Australia)

^c SYDNEY CHILDREN'S HOSPITAL   (Australia)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; CALCIUM CHANNEL BLOCKING AGENT; CARBAMAZEPINE; CORTICOSTEROID; DOSULEPIN; ETHOSUXIMIDE; FAMPRIDINE; LEVETIRACETAM; METHYLPREDNISOLONE; PIZOTIFEN; PREDNISOLONE; PROPRANOLOL; RIBOFLAVIN; TOPIRAMATE; VALPROIC ACID; VERAPAMIL; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL;

ARTICLE; ATAXIA; BRAIN ATROPHY; CACNA1A GENE; CEREBELLUM ATROPHY; CHILD; CHILD CARE; CHRONIC DAILY HEADACHE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DISEASE SEVERITY; DRUG EFFICACY; DYSMETRIC SACCADE; ESOTROPIC STRABISMUS; EYE MOVEMENT DISORDER; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; HEMIPLEGIC MIGRAINE; HUMAN; INFANT; INTENSIVE CARE UNIT; MALE; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PAROXYSMAL TONIC UPGAZE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SEIZURE; TERTIARY CARE CENTER; DEVELOPMENTAL DISABILITIES; GENETICS; HOSPITAL; MIGRAINE DISORDERS; MUTATION; OCULAR MOTILITY DISORDERS; PHENOTYPE; SEIZURES;

ATAXIA; CALCIUM CHANNEL BLOCKERS; CALCIUM CHANNELS; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; HOSPITALS, PEDIATRIC; HUMANS; INFANT; MALE; MIGRAINE DISORDERS; MUTATION; OCULAR MOTILITY DISORDERS; PHENOTYPE; SEIZURES; TERTIARY CARE CENTERS;

EID: 84956659207     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.13033     Document Type: Article

References (32)

1. Russell MB, Ducros A. Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol 2011; 10: 457-70.
2. Wada T, Kobayashi N, Takahashi Y, Aoki T, Watanabe T, Saitoh S. Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia. Pediatr Neurol 2002; 26: 47-50.
3. Ducros A, Denier C, Joutel A, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 2001; 345: 17-24.
4. Knierim E, Leisle L, Wagner C, et al. Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. Stroke 2011; 42: e14-17.
5. Kors EE, Terwindt GM, Vermeulen FL, et al. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol 2001; 49: 753-60.
6. Kors EE, Haan J, Giffin NJ, et al. Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. Arch Neurol 2003; 60: 684-88.
7. Blumkin L, Michelson M, Leshinsky-Silver E, Kivity S, Lev D, Lerman-Sagie T. Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. J Child Neurol 2010; 25: 892-97.
8. Ohmura K, Suzuki Y, Saito Y, Wada T, Goto M, Seto S. Sporadic hemiplegic migraine presenting as acute encephalopathy. Brain Dev 2012; 34: 691-95.
9. Yu W, Horowitz SH. Treatment of sporadic hemiplegic migraine with calcium-channel blocker verapamil. Neurology 2003; 60: 120-21.
10. Asghar SJ, Milesi-Halle A, Kaushik C, Glasier C, Sharp GB. Variable manifestations of familial hemiplegic migraine associated with reversible cerebral edema in children. Pediatr Neurol 2012; 47: 201-04.
11. Blumkin L, Leshinsky-Silver E, Michelson M, et al. Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A. EJPN 2015; 19: 292-97.
12. Roubertie A, Echenne B, Leydet J, et al. Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family. J Neurol 2008; 255: 1600-02.
13. Kipfer S, Jung S, Lemke JR, et al. Novel CACNA1A mutation(s) associated with slow saccade velocities. J Neurol 2013; 260: 3010-14.
14. Christova P, Anderson JH, Gomez CM. Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol 2008; 65: 530-36.
15. Bertholon P, Chabrier S, Riant F, Tournier-Lasserve E, Peyron R. Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood. J Neurol Neurosurg Psychiatry 2009; 80: 1289-92.
16. Barros J, Damasio J, Tuna A, et al. Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family. JAMA Neurol 2013; 70: 235-40.
17. Ouvrier RA, Billson F. Benign paroxysmal tonic upgaze of childhood. J Child Neurol 1988; 3: 177-80.
18. Kors EE, Melberg A, Vanmolkot KR, et al. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. Neurology 2004; 63: 1136-37.
19. Jen J. Calcium channelopathies in the central nervous system. Curr Opin Neurobiol 1999; 9: 274-80.
20. Robinson JT, Thorvaldsdóttir H, Winckler W, et al. Integrative genomics viewer. Nat Biotechnol 2011; 29: 24-26.
21. Thorvaldsdóttir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 2013; 14: 178-92.
22. Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62-69.
23. Salmina C, Taddeo I, Falesi M, Weber P, Bianchetti MG, Ramelli GP. Paroxysmal tonic upgaze in normal children: a case series and a review of the literature. EJPN 2012; 16: 683-87.
24. Ouvrier R, Billson F. Paroxysmal tonic upgaze of childhood-a review. Brain Dev 2005; 27: 185-88.
25. Carreno O, Corominas R, Serra SA, et al. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies. Mol Genet Genom Med 2013; 1: 206-22.
26. Ohba C, Osaka H, Iai M, et al. Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics 2013; 14: 225-32.
27. Malpas TJ, Riant F, Tournier-Lasserve E, Vahedi K, Neville BG. Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. Dev Med Child Neurol 2010; 52: 103-04.
28. Friend KL, Crimmins D, Phan TG, et al. Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. Hum Genet 1999; 105: 261-65.
29. Battistini S, Stenirri S, Piatti M, et al. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. Neurology 1999; 53: 38-43.
30. Thomsen LL, Kirchmann M, Bjornsson A, et al. The genetic spectrum of a population-based sample of familial hemiplegic migraine. Brain 2007; 130: 346-56.
31. Riant F, Ducros A, Ploton C, Barbance C, Depienne C, Tournier-Lasserve E. De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. Neurology 2010; 75: 967-72.
32. Curtain RP, Smith RL, Ovcaric M, Griffiths LR. Minor head trauma-induced sporadic hemiplegic migraine coma. Pediatr Neurol 2006; 34: 329-32.