Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

Journal of the Neurological Sciences

Volumn 342, Issue 1-2, 2014, Pages 69-78

  García Segarra, Nuria ^a   Gautschi, Ivan ^b   Mittaz Crettol, Laureane ^a   Kallay Zetchi, Christine ^a   Al Qusairi, Lama ^b   Van Bemmelen, Miguel Xavier ^b   Maeder, Philippe ^a   Bonafé, Luisa ^a   Schild, Laurent ^b   Roulet Perez, Eliane ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

Acetazolamide response; Congenital ataxia; Developmental delay; Gain of function; Novel CACNA1A mutation; Severe SHM1

Indexed keywords

ACETAZOLAMIDE; CALCIUM CHANNEL CACNA 1A; CARBAMAZEPINE; FLUNARIZINE; METHYLPREDNISOLONE; PHENYLALANINE; PHENYTOIN; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL;

ADD ON THERAPY; ADOLESCENT; ANTICONVULSANT THERAPY; APRAXIA; ARTICLE; ATAXIA; ATAXIC GAIT; BLINKING; BRAIN ATROPHY; BRAIN EDEMA; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CHILDHOOD DISEASE; CLINICAL FEATURE; COMA; CONGENITAL DISORDER; CONSCIOUSNESS; DEPOLARIZATION; DEVELOPMENTAL DISORDER; DYSMETRIA; ELECTRIC POTENTIAL; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; EYE MOVEMENT DISORDER; FEMALE; GAIN OF FUNCTION MUTATION; GAZE; GENOTYPE; HEAD INJURY; HEMIPARESIS; HEMIPLEGIC MIGRAINE; HETEROZYGOSITY; HUMAN; HYPERTHERMIA; INTENSIVE CARE; LETHARGY; MUSCLE HYPOTONIA; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PREECLAMPSIA; PRIORITY JOURNAL; REMISSION; REPEAT PROCEDURE; RIGHT HEMISPHERE; SEIZURE; SLEEP DEPRIVATION; SPIKE WAVE; ANIMAL; CEREBELLAR ATAXIA; CHILD; COMPLICATION; GENETIC PREDISPOSITION; GENETICS; INFANT; MEMBRANE POTENTIAL; MIGRAINE DISORDERS; MISSENSE MUTATION; NEUROIMAGING; OOCYTE; PHYSIOLOGY; PRESCHOOL CHILD; XENOPUS LAEVIS;

ACETAZOLAMIDE; ADOLESCENT; ANIMALS; ATAXIA; BRAIN EDEMA; CALCIUM CHANNELS; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MEMBRANE POTENTIALS; MIGRAINE DISORDERS; MUTATION, MISSENSE; NEUROIMAGING; OOCYTES; XENOPUS LAEVIS;

EID: 84902118800     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2014.04.027     Document Type: Article

References (36)

1. R.A. Ophoff, G.M. Terwindt, M.N. Vergouwe, R. van Eijk, P.J. Oefner, and S.M. Hoffman et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2 + channel gene CACNL1A4 Cell 87 3 1996 543 552 (Pubitemid 26374327)
2. O. Zhuchenko, J. Bailey, P. Bonnen, T. Ashizawa, D.W. Stockton, and C. Amos et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel Nat Genet 15 1 1997 62 69
3. D. Pietrobon CaV2.1 channelopathies Pflugers Arch - Eur J Physiol 460 2 2010 375 393
4. N. Pelzer, A.H. Stam, J. Haan, M.D. Ferrari, and G.M. Terwindt Familial and sporadic hemiplegic migraine: diagnosis and treatment Curr Treat Options Neurol 15 1 2013 13 27
5. A. Ducros, C. Denier, A. Joutel, M. Cecillon, C. Lescoat, and K. Vahedi et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel N Engl J Med 345 1 2001 17 24 (Pubitemid 32634267)
6. G.M. Terwindt, R.A. Ophoff, J. Haan, R.R. Frants, and M.D. Ferrari Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG Cephalalgia: Int J Headache 16 3 1996 153 155 (Pubitemid 26166181)
7. E.E. Kors, G.M. Terwindt, F.L. Vermeulen, R.B. Fitzsimons, P.E. Jardine, and P. Heywood 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 49 6 2001 753 760 (Pubitemid 32530242)
8. M.B. Russell, and A. Ducros Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management Lancet Neurol 10 5 2011 457 470
9. B.S. Athwal, and G.G. Lennox Acetazolamide responsiveness in familial hemiplegic migraine Ann Neurol 40 5 1996 820 821 (Pubitemid 26415200)
10. S. Battistini, S. Stenirri, M. Piatti, C. Gelfi, P.G. Righetti, and R. Rocchi et al. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia Neurology 53 1 1999 38 43 (Pubitemid 29329646)
11. T. Omata, J. Takanashi, T. Wada, H. Arai, and Y. Tanabe Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine Brain Dev 33 4 2011 332 334
12. E. Knierim, L. Leisle, C. Wagner, B. Weschke, B. Lucke, and G. Bohner et al. Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil Stroke J Cereb Circ 42 2 2011 e14 e17
13. C. Denier, A. Ducros, K. Vahedi, A. Joutel, P. Thierry, and A. Ritz et al. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2 Neurology 52 9 1999 1816 1821 (Pubitemid 29260894)
14. J. Jen, G.W. Kim, and R.W. Baloh Clinical spectrum of episodic ataxia type 2 Neurology 62 1 2004 17 22 (Pubitemid 38082863)
15. J. Jen Calcium channelopathies in the central nervous system Curr Opin Neurobiol 9 3 1999 274 280
16. A. Tonelli, M.G. D'Angelo, R. Salati, L. Villa, C. Germinasi, and T. Frattini et al. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene J Neurol Sci 241 1-2 2006 13 17 (Pubitemid 43112510)
17. Q. Yue, J.C. Jen, M.M. Thwe, S.F. Nelson, and R.W. Baloh De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia Am J Med Genet 77 4 1998 298 301 (Pubitemid 28208722)
18. S. Marti, R.W. Baloh, J.C. Jen, D. Straumann, and H.H. Jung Progressive cerebellar ataxia with variable episodic symptoms - phenotypic diversity of R1668W CACNA1A mutation Eur Neurol 60 1 2008 16 20 (Pubitemid 351799062)
19. A.M. Duenas, R. Goold, and P. Giunti Molecular pathogenesis of spinocerebellar ataxias Brain: Neurol Neurosurg 129 Pt 6 2006 1357 1370 (Pubitemid 43999370)
20. L. Blumkin, M. Michelson, E. Leshinsky-Silver, S. Kivity, D. Lev, and T. Lerman-Sagie Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation J Child Neurol 25 7 2010 892 897
21. S. Naik, K. Pohl, M. Malik, A. Siddiqui, and D. Josifova Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene Pediatr Neurol 45 5 2011 328 330
22. Z. Matsuyama, M. Murase, H. Shimizu, Y. Aoki, M. Hayashi, and I. Hozumi et al. A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family J Neurol Sci 210 1-2 2003 91 93 (Pubitemid 36539411)
23. R.P. Curtain, R.L. Smith, M. Ovcaric, and L.R. Griffiths Minor head trauma-induced sporadic hemiplegic migraine coma Pediatr Neurol 34 4 2006 329 332
24. R. Romaniello, C. Zucca, A. Tonelli, S. Bonato, C. Baschirotto, and N. Zanotta et al. A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation J Neurol Neurosurg Psychiatry 81 8 2010 840 843
25. P.J. Adams, E. Garcia, L.S. David, K.J. Mulatz, S.D. Spacey, and T.P. Snutch CaV2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies Channels 3 2 2009 110 121
26. R.L. Kraus, M.J. Sinnegger, H. Glossmann, S. Hering, and J. Striessnig Familial hemiplegic migraine mutations change alpha 1A Ca2 + channel kinetics J Biol Chem 273 10 1998 5586 5590 (Pubitemid 28124027)
27. R.L. Kraus, M.J. Sinnegger, A. Koschak, H. Glossmann, S. Stenirri, and P. Carrera et al. Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2 +) channel kinetics J Biol Chem 275 13 2000 9239 9243 (Pubitemid 30185142)
28. A. Tottene, T. Fellin, S. Pagnutti, S. Luvisetto, J. Striessnig, and C. Fletcher et al. Familial hemiplegic migraine mutations increase Ca(2 +) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons Proc Natl Acad Sci U S A 99 20 2002 13284 13289
29. A. Tottene, F. Pivotto, T. Fellin, T. Cesetti, A.M. van den Maagdenberg, and D. Pietrobon Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma J Biol Chem 280 18 2005 17678 17686 (Pubitemid 41389004)
30. A.M. van den Maagdenberg, D. Pietrobon, T. Pizzorusso, S. Kaja, L.A. Broos, and T. Cesetti et al. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression Neuron 41 5 2004 701 710 (Pubitemid 38326833)
31. Z. Gao, B. Todorov, C.F. Barrett, S. van Dorp, M.D. Ferrari, and A.M. van den Maagdenberg et al. Cerebellar ataxia by enhanced Ca(V)2.1 currents is alleviated by Ca2 +-dependent K +-channel activators in Cacna1a (S218L) mutant mice J Neurosci: Off J Soc Neurosci 32 44 2012 15533 15546
32. A. Tottene, R. Conti, A. Fabbro, D. Vecchia, M. Shapovalova, and M. Santello et al. Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice Neuron 61 5 2009 762 773
33. A.M. van den Maagdenberg, T. Pizzorusso, S. Kaja, N. Terpolilli, M. Shapovalova, and F.E. Hoebeek et al. High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice Ann Neurol 67 1 2010 85 98
34. A. Di Cristofori, L. Fusi, A. Gomitoni, G. Grampa, A. Bersano, and Lombardia Gc R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update J Headache Pain 13 5 2012 419 423
35. J.T. Walter, K. Alvina, M.D. Womack, C. Chevez, and K. Khodakhah Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia Nat Neurosci 9 3 2006 389 397 (Pubitemid 43290969)
36. K. Alvina, and K. Khodakhah KCa channels as therapeutic targets in episodic ataxia type-2 J Neurosci: Off J Soc Neurosci 30 21 2010 7249 7257