A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred

Headache

Volumn 48, Issue 1, 2008, Pages 101-108

  Fernandez, Desiree M ^a   Hand, Collette K ^b   Sweeney, Brian J ^a   Parfrey, Nollaig A ^a,b  

^a University College Cork and INFANT Centre   (Ireland)

^b UNIVERSITY COLLEGE CORK   (Ireland)

Author keywords

ATP1A2 gene mutation; Familial hemiplegic migraine

Indexed keywords

ADULT; ARTICLE; ATP1A2 GENE; AUTOSOMAL DOMINANT INHERITANCE; CACNA1A GENE; CHROMOSOME 19P; CHROMOSOME 1Q; CHROMOSOME 2Q; CLINICAL ARTICLE; EXON; FAMILIAL HEMIPLEGIC MIGRAINE; FAMILY STUDY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC CONSERVATION; GENETIC SCREENING; HUMAN; IRELAND; LINKAGE ANALYSIS; MALE; MIGRAINE WITH AURA; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; RARE DISEASE; SCN1A GENE;

ASPARTIC ACID; CALCIUM CHANNELS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC SCREENING; HISTIDINE; HUMANS; IRELAND; MALE; MIGRAINE WITH AURA; MUTATION; NERVE TISSUE PROTEINS; SODIUM CHANNELS; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 37548999018     PISSN: 00178748     EISSN: 15264610     Source Type: Journal    
DOI: 10.1111/j.1526-4610.2007.00848.x     Document Type: Article

References (46)

1. Olesen J, Steiner TJ. The International Classification of Headache Disorders, 2nd edition (ICDHII). J Neurol Neurosurg Psychiatry. 2004 75 : 808 811.
2. Thomsen LL, Eriksen MK, Roemer SF, et al. An epidemiological survey of hemiplegic migraine. Cephalalgia. 2002 22 : 362 375.
3. Kors EE, Melberg A, Vanmolkot KR, et al. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. Neurology. 2004 63 : 1136 1137.
4. Joutel A, Bousser MG, Biousse V, et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet. 1993 5 : 40 45.
5. 2+ channel gene CACNL1A4. Cell. 1996 87 : 543 552.
6. Estevez M, Gardner KL. Update on the genetics of migraine. Hum Genet. 2004 114 : 225 235.
7. DeFusco M, Marconi R, Silvestri L, et al. Haploinsuffciency of ATP1A2 encoding the Na+/K+pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet. 2003 33 : 192 196.
8. Mobasheri A, Avila J, Cozar-Castellano I, et al. Na+, K+-ATPase isozyme diversity; comparative biochemistry and physiological implications of novel functional interactions. Biosci Rep. 2000 20 : 51 91.
9. Dichgans M, Freilinger T, Eckstein G, et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. 2005 366 : 371 377.
10. Gardner K, Barmada MM, Ptacek LJ, Hoffman EP. A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology. 1997 49 : 1231 1238.
11. 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.
12. Kors EE, Haan J, Giffin NJ, et al. Expanding the phenotypic spectrum of the CACNA1Agene T666M mutation: A description of 5 families with familial hemiplegic migraine. Arch Neurol. 2003 60 : 684 688.
13. Ducros A, Joutel A, Vahedi K, et al. Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. Ann Neurol. 1997 42 : 885 890.
14. Kaunisto MA, Harno H, Vanmolkot KR, et al. A novel missenseATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. Neurogenetics. 2004 5 : 141 146.
15. Marconi R, De Fusco M, Aridon P, et al. Familial hemiplegic migraine type 2 is linked to 0.9 Mb region on chromosome 1q23. Ann Neurol. 2003 53 : 376 381.
16. Spadaro M, Ursu S, Lehmann-Horn F, et al. A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Neurogenetics. 2004 5 : 177 185.
17. Jurkat-Rott K, Freilinger T, Dreier JP, et al. Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. Neurology. 2004 62 : 1857 1861.
18. Vanmolkot KR, Kors EE, Hottenga JJ, et al. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol. 2003 54 : 360 366.
19. Cevoli S, Pierangeli G, Monari L, et al. Familial hemiplegic migraine: Clinical features and probable linkage to chromosome 1 in an Italian family. Neurol Sci. 2002 23 : 7 10.
20. Harno H, Hirvonen T, Kaunisto MA, et al. Subclinical vestibulocerebellar dysfunction in migraine with and without aura. Neurology. 2003 61 : 1748 1752.
21. Battistini S, Stenirri S, Piatti M, et al. A new CACNA1A gene mutation in acetazolamideresponsive familial hemiplegic migraine and ataxia. Neurology. 1999 53 : 38 43.
22. 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 : 753 760.
23. Pierelli F, Grieco GS, Pauri F, et al. Anovel ATP1A2 mutation in a family with FHM type II. Cephalalgia. 2006 26 : 324 328.
24. Riant F, De Fusco M, Aridon P, et al. ATP1A2 mutations in 11 families with familial hemiplegic migraine. Hum Mutat. 2005 26 : 281.
25. Vanmolkot KR, Kors EE, Turk U, et al. Two de novo mutations in the Na, K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine. Eur J Hum Genet. 2006 14 : 555 560.
26. Vanmolkot KR, Stroink H, Koenderink JB, et al. Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Ann Neurol. 2006 59 : 310 314.
27. Moseley AE, Lieske SP, Wetzel RK, et al. The Na, K-ATPase alpha 2 isoform is expressed in neurons, and its absence disrupts neuronal activity in newborn mice. J Biol Chem. 2003 278 : 5317 5324.
28. Moller JV, Juul B, Le Maire M. Structural organization, ion transport, and energy transduction of P-type ATPases. Biochim Biophys Acta. 1996 1286 : 1 51.
29. Vanmolkot KR, Kors EE, Turk U, et al. Two de novo mutations in the Na, K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine. Eur J Hum Genet. 2006.
30. Kraig RP, Ferreira-Filho CR, Nicholson C. Alkaline and acid transients in cerebellar microenvironment. J Neurophysiol. 1983 49 : 831 850.
31. Lauritzen M. Pathophysiology of the migraine aura. The spreading depression theory. Brain. 1994 117 (Pt 1 199 210.
32. Kunkler PE, Kraig RP. Calcium waves precede electrophysiological changes of spreading depression in hippocampal organ cultures. J Neurosci. 1998 18 : 3416 3425.
33. Tottene A, Fellin T, Pagnutti S, 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 USA. 2002 99 : 13284 13289.
34. Todt U, Dichgans M, Jurkat-Rott K, et al. Rare missense variants in ATP1A2 in families with clustering of common forms of migraine. Hum Mutat. 2005 26 : 315 321.
35. Jen JC, Kim GW, Dudding KA, Baloh RW. No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Arch Neurol. 2004 61 : 926 928.
36. Terwindt GM, Ophoff RA, van Eijk R, et al. Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura. Neurology. 2001 56 : 1028 1032.
37. May A, Ophoff RA, Terwindt GM, et al. Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura. Hum Genet. 1995 96 : 604 608.
38. Nyholt DR, Lea RA, Goadsby PJ, Brimage PJ, Griffiths LR. Familial typical migraine: Linkage to chromosome 19p13 and evidence for genetic heterogeneity. Neurology. 1998 50 : 1428 1432.
39. Wessman M, Kallela M, Kaunisto MA, et al. A susceptibility locus for migraine with aura, on chromosome 4q24. Am J Hum Genet. 2002 70 : 652 662.
40. Noble-Topham SE, Dyment DA, Cader MZ, et al. Migraine with aura is not linked to the FHM gene CACNA1A or the chromosomal region, 19p13. Neurology. 2002 59 : 1099 1101.
41. Lea RA, Curtain RP, Hutchins C, Brimage PJ, Griffiths LR. Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility. Am J Med Genet. 2001 105 : 707 712.
42. Hovatta I, Kallela M, Farkkila M, Peltonen L. Familial migraine: Exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p. Genomics. 1994 23 : 707 709.
43. Jones KW, Ehm MG, Pericak-Vance MA, Haines JL, Boyd PR, Peroutka SJ. Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus. Genomics. 2001 78 : 150 154.
44. Monari L, Mochi M, Valentino ML, et al. Searching for migraine genes: Exclusion of 290 cM out of the whole human genome. Ital J Neurol Sci. 1997 18 : 277 282.
45. Wieser T, Mueller C, Evers S, Zierz S, Deufel T. Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: Implications for genetic testing. Clin Chem Lab Med. 2003 41 : 272 275.
46. Brugnoni R, Leone M, Rigamonti A, et al. Is the CACNA1A gene involved in familial migraine with aura? Neurol Sci. 2002 23 : 1 5.