The quest for migraine genes

Current Opinion in Neurology

Volumn 10, Issue 3, 1997, Pages 221-225

  Terwindt, Gisela M ^a   Haan, Joost ^a,b   Ophoff, Roel A ^a   Frants, Rune R ^a   Ferrari, Michel D ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RIJNLAND HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIMIGRAINE AGENT; CALCIUM CHANNEL; CALCIUM ION;

CHROMOSOME 19Q; CLUSTER HEADACHE; ENVIRONMENTAL FACTOR; GENE ISOLATION; HUMAN; MIGRAINE; PATHOPHYSIOLOGY; REVIEW;

EID: 0030858341     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199706000-00009     Document Type: Review

References (56)

1. Russell MB, Fenger K, Olesen J: The family history of migraine. Direct versus indirect information. Cephalalgia 1996, 16:156-160.
2. Kalfakis N, Panas M, Vassilopoulos D, Malliara-Loulakaki S: Migraine with aura: segregation analysis and heritability estimation. Headache 1996, 36:320-322.
3. Russell MB, Iselius L, Olesen J: Migraine without aura and migraine with aura are inherited disorders. Cephalalgia 1996, 16:305-309. The authors analysed the mode of inheritance in families identified from the general population by interviewing probands and first degree relatives. First degree family members of probands with migraine without aura had a significantly increased risk both for migraine with (1.4) and for migraine without (1.9) aura. Spouses of probands with migraine without aura had a 1.5-fold increased risk for migraine without aura. First degree family members of probands with migraine with aura had a nearly fourfold increased risk for migraine with aura, but not for migraine without aura. Spouses of probands with migraine with aura had no increased risk for migraine with aura. The authors concluded that migraine with aura is largely or exclusively determined by genetic factors whereas migraine without aura seems to be caused by a combination of genetic and environmental factors. A complex segregation analysis [5•] of the same study indicated both that migraine with and that migraine without aura have multifactorial inheritance without generational difference.
4. Russell MB, Olesen J: Increased familial risk and evidence of genetic factor in migraine. Br Med J 1995, 311:541-544.
5. Russell MB, Iselius L, Olesen J: Inheritance of migraine investigated by complex segregation analysis. Hum Genet 1995, 96:726-730. See [3•].
6. Pardo J, Carracedo A, Munoz I, Castillo J, Lema M, Noya M: Genetic marker: association study in migraine. Cephalalgia 1995, 15:200-204.
7. Terwindt GM, Ferrari MD: Association study in migraine. Cephalalgia 1995, 15:163-164.
8. Ottman R, Lipton RB: Is the comorbidity of epilepsy and migraine due to a shared genetic susceptibility? Neurology 1996, 47:918-924. This study tested the hypothesis that the comorbidity of migraine and epilepsy results from a shared genetic susceptibility to the two disorders. The authors assessed the risk of migraine in relatives of probands with genetic versus nongenetic forms of epilepsy. No association between migraine and genetic forms of epilepsy was found. Secondly, the risk for epilepsy in relatives of probands with versus those without migraine was estimated. With the exception of one subgroup (sons of female probands), risk of epilepsy in relatives was not associated with the proband's history of migraine. The authors concluded that these results are inconsistent with the hypothesis of a shared genetic susceptibility to migraine and epilepsy.
9. Haan J, Terwindt GM, Ferrari MD: Genetics of migraine. In Neurological clinics (advances in headache). Edited by Mathew NT. Philadelphia: W.B. Saunders; 1997:43-60.
10. Baloh RW, Jacobson K, Fife T: Familial vestibulopathy: a new dominantly inherited syndrome. Neurology 1994, 44:20-25.
11. Baloh RW, Foster CA, Yue Q, Nelson SF: Familial migraine with vertigo and essential tremor. Neurology 1996, 46:458-460.
12. Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H, Mas JL, Cabanis EA, Baudrimont M, Maciazek J et al.: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 1993, 3:256-259.
13. Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, Krebs MO, Julien J, Dubois B, Ducrocq X et al.: Clinical spectrum of CADASIL: a study of 7 families. Lancet 1995, 346:934-939. Seven families with CADASIL were examined by magnetic resonance imaging and genetic linkage analysis. Forty-five family members (23 men and 22 women) were clinically affected. Frequent signs were recurrent subcortical dementia with pseudobulbar palsy (31%), mood disorders with severe depressive episodes (20%), and migraine with aura (22%). The authors stated that the diagnosis of CADASIL should be considered not only in patients with recurrent small subcortical infarcts leading to dementia, but also in patients with transient ischaemic attacks, migraine with aura or mood disturbances, whenever magnetic resonance imaging reveals prominent signal abnormalities in the subcortical white-matter and basal ganglia. Investigations of family members is then crucial for the diagnosis.
14. Verin M, Rolland Y, Landgraf F, Chabriat H, Bompais B, Michel A, Vahedi K, Martinet JP, Tournier-Lasserve E, Lemaitre MH, Edan G: New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. J Neurol Neurosurg Psychiatry 1995, 59:579-585.
15. Jung HH, Bassetti C, Tournier-Lasserve E, Vahedi K, Arnaboldi M, Arifi BV, Burgunder JM: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family. J Neurol Neurosurg Psychiatry 1995, 59:138-143.
16. Weller M, Petersen D, Dichgans J, Klockgether T: Cerebral angiography complications link cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy to familial hemiplegic migraine. Neurology 1996, 46:844.
17. Hutchinson M, O'Riordan J, Javed M, Quin E, Macerlaine D, Willcox T, Parfrey N, Nagy TG, Tournier-Lasserve E: Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). Ann Neurol 1995, 38:817-824.
18. Chabriat H, Tournier-Lasserve E, Vahedi K, Leys D, Joutel A, Nibbio A, Escaillas JP, Iba-Zizen MT, Bracard S, Tehindrazanarivelo A et al.: Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. Neurology 1995, 45:1086-1091.
19. Marchioni E, Galimberti CA, Soragna D, Ferrandi D, Maurelli M, Ratti MT, Bo P, Montalbetti L, Albergati A, Savoldi F: Familial hemiplegic migraine versus migraine with prolonged aura: an uncertain diagnosis in a family report. Neurology 1995, 45:33-37.
20. Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach MA, Weissenbach J et al.: A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 1993, 5:40-45.
21. Ducros A, Nagy T, Alamowitch S, Nibbio A, Joutel A, Vahedi K, Chabriat H, Iba-Zizen MT, Julien J, Davous P et al.: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval. Am J Hum Genet 1996, 58:171-181.
22. Dichgans M, Mayer M, Muller-Myhsok B, Straube A, Gasser T: Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine. Genomics 1996, 32:151-154.
23. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Maréchal E et al.: Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996, 383:707-710. The authors report of the characterization of the human Notch3 gene which was mapped to chromosome 19p13. Ten mutations in 14 unrelated patients with CADASIL were identified, indicating that Notch3 is the defective protein in CADASIL patients.
24. Gancher ST, Nutt JG: Autosomal dominant episodic ataxia: a heterogeneous syndrome. Movement Disord 1986, 1:239-253.
25. Bain PG, O'Brien MD, Keevil SF, Porter DA: Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 1992, 31:147-154.
26. von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE: Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 1995, 4:279-284. This is a report of linkage of EA-2 to chromosome 19p.
27. Vahedi K, Joutel A, Van Bogaert P, Ducros A, Maciazeck J, Bach JF, Bousser MG, Tournier-Lasserve E: A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995, 37:289-293. This is a report of linkage of EA-2 to chromosome 19p.
28. Vighetto A, Froment JC, Trillet M, Aimard G: Magnetic resonance imaging in familial paroxysmal ataxia. Arch Neurol 1988, 45:547-549.
29. Moon SL, Koller WC. Hereditary periodic ataxias. In Handbook of clinical neurology. Hereditary neuropathies and spinocerebellar ataxias. Edited by de Jong JMBV. Amsterdam: Elsevier Science; 1991:433-443.
30. Hawkes CH: Familial paroxysmal ataxia: report of a family. J Neurol Neurosurg Psychiatry 1992, 55:212-213.
31. Kramer PL, Yue Q, Gancher ST, Nutt JG, Baloh R, Smith E, Browne D, Bussey K, Lovrien E, Nelson S et al.: A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p [Letter]. Am J Hum Genet 1995, 57:182-185. This is a report of linkage of EA-2 to chromosome 19p.
32. Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, Larsson C: Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. Am J Hum Genet 1995, 56:1443-1449. This is a report of linkage of EA-2 to chromosome 19p.
33. 2+ channel gene CACNL1A4. Cell 1996, 87:543-552. A brain specific P/Q-type calcium channel α1-subunit gene CACNL1A4 was identified on chromosome 19p13. FHM and EA-2 have been mapped in this region. Four different missense mutations in conserved functional domains were found in five unrelated FHM families. In EA-2, two mutations disrupting the reading frame were found. FHM and EA-2 can be considered as allelic channelopathies.
34. Headache Classification Committee of the International Headache Society: Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Cephalalgia 1988, 8(suppl 7):1-97.
35. Lee TG, Solomon GD, Kunkel RS, Raja S: Reversible cerebellar perfusion in familial hemiplegic migraine. Lancet 1996, 348:1383.
36. Haan J, Terwindt GM, Ophoff RA, Frants RR, Ferrari MD: Is familial hemiplegic migraine the hereditary form of basilar artery migraine? Cephalalgia 1995, 15:477-481.
37. Ophoff RA, van Eijk R, Sandkuijl LA, Terwindt GM, Grubben CP, Haan J, Lindhout D, Ferrari MD, Frants RR: Genetic heterogeneity of familial hemiplegic migraine. Genomics 1994, 22:21-26.
38. Joutel A, Ducros A, Vahedi K, Labauge P, Delrieu O, Pinsard N, Mancini J, Ponsot G, Gouttiere F, Gastaut JL et al.: Genetic heterogeneity of familial hemiplegic migraine. Am J Hum Genet 1994, 55:1166-1172.
39. Terwindt GM, Ophoff RA, Haan J, Frants RR, Ferrari MD, for the DMGRG: Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19. Cephalalgia 1996, 16:153-155. The clinical characteristics of 46 patients from three unrelated families with FHM linked to chromosome 19 were compared with those of 20 patients from two families with FHM not linked to chromosome 19. No significant differences for age at onset, frequency and duration of attacks, duration of paresis, and occurrence of basilar symptoms were found.
40. Haan J, Terwindt GM, Bos PL, Ophoff RA, Frants RR, Ferrari MD: Familial hemiplegic migraine in The Netherlands. Dutch Migraine Genetics Research Group. Clin Neurol Neurosurg 1994, 96:244-249.
41. Tournier-Lasserve E: Genetics of familial hemiplegic migraine. In Migraine. Pharmacology and genetics. Edited by Sandler M, Ferrari M, Harnett S. London: Chapman & Hall: 1996:282-290.
42. Elliott MA, Peroutka SJ, Welch S, May EF: Familial hemiplegic migraine, nystagmus, and cerebellar atrophy. Ann Neurol 1996, 39:100-106.
43. 1A is widely expressed in the central nervous system with prominent, uniform expression in the cerebellum.
44. Peroutka SJ, Howell TA: The genetic evaluation of migraine: clinical database requirements. In Towards migraine 2000. Edited by Clifford Rose F. Amsterdam: Elsevier Science; 1996:35-42.
45. Nyholt DR, Curtain RP, Gaffney PT, Brimage P, Goadsby PJ, Griffiths LR: Migraine association and linkage analyses of the human 5-hydroxytryptamine (5HT2A) receptor gene. Cephalalgia 1996, 16:463-467.
46. Buchwalder A, Welch SK, Peroutka SJ: Excusion of 5-HT2A and 5-HT2C receptor genes as candidate genes for migraine. Headache 1996, 36:254-258.
47. Frants RR, Ophoff RA, Terwindt GM, Urban C, Eijk van R, Haan J, Diener HC, Lindhout D, May A, Sandkuijl LA, Ferrari MD: Chromosome 19 in migraine with and without aura. In Migraine. Pharmacology and genetics. Edited by Sandler M, Ferrari M, Harriett S. London: Chapman & Hall: 1996:291-299.
48. Ferrari MD, Haan J, Terwindt GM, Ophoff RA, Frants RR: Migraine and chromosome 19. In Towards migraine 2000. Edited by Clifford Rose F. Amsterdam: Elsevier Science; 1996:25-34.
49. Welch KMA, Ramadan NM: Mitochondria, magnesium and migraine. J Neurol Sci 1995, 134:9-14. The evidence for disordered mitochondrial oxidative phosphorylation and reduced intracellular free magnesium in brain and body tissue of migraine sufferers both between and during an attack is reviewed. The authors proposed that between attacks these metabolic shifts cause instability of neuronal function that enhances the susceptibility of the brain to develop a migraine attack.
50. Klopstock T, May A, Seibel P, Papagiannuli E, Diener HC, Reichmann H: Mitochondrial DNA in migraine with aura. Neurology 1996, 46:1735-1738.
51. D'Amico D, Leone M, Moschiano F, Bussone G: Familial cluster headache: report of three families. Headache 1996, 36:41-43.
52. Russell MB, Andersson PG, Thomsen LL, Iselius L: Cluster headache is an autosomal dominantly inherited disorder in some families: a complex segregation analysis. J Med Genet 1995, 32:954-956. The authors investigated the mode of inheritance of cluster headache in 370 probands; 25 of these 370 patients had 36 relatives with cluster headache. The segregation analysis suggested that cluster headache has an autosomal dominant gene with a penetrance of 0.30 0.34 in men and 0.17 0.21 in women. The gene is present in 3-4% of men and in 7 10% of women with cluster headache.
53. Russell MB, Andersson PG: Clinical intra- and interfamily variability of cluster headache. Eur J Neurol 1995, 1:253-257.
54. Shimomura T, Kitano A, Marukawa H, Mishima K, Isoe K, Adachi Y, Takahashi K: Point mutation in platelet mitochondrial tRNA(Leu(UUR)) in patient with cluster headache [Letter]. Lancet 1994, 344:625.
55. Cortelli P, Zacchini A, Barboni P, Malpassi P, Carelli V, Montagna P: Lack of association between mitochondrial tRNA(Leu(UUR)) point mutation and cluster headache [Letter]. Lancet 1995, 345:1120-1121.
56. Seibel P, Grünewald T, Gundolla A, Diener HC, Reichmann H: Investigation on the mitochondrial transfer RNALeu(UUR) in blood cells from patients with cluster headache. J Neurol 1995, 243:305-307.