A gene for a new monogenic neurovascular migraine syndrome: A next step in unravelling molecular pathways for migraine?

Cephalalgia

Volumn 28, Issue 5, 2008, Pages 471-473

  Vanmolkot, K R J ^a   Terwindt, G M ^a   Frants, R R ^a   Haan, J ^a,b   Van Den Maagdenberg, A M J M ^a   Ferrari, M D ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RIJNLAND HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CADASIL; COL4A1 GENE; EDITORIAL; FAMILIAL HEMIPLEGIC MIGRAINE; GENE; GENE MUTATION; GHM2 GENE; HUMAN; LEUKODYSTROPHY; MIGRAINE; NOTCH3 GENE;

BRAIN; CEREBROVASCULAR DISORDERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIGRAINE DISORDERS; MODELS, NEUROLOGICAL; NERVE TISSUE PROTEINS; SIGNAL TRANSDUCTION; SYNDROME;

EID: 41849126785     PISSN: 03331024     EISSN: 14682982     Source Type: Journal    
DOI: 10.1111/j.1468-2982.2007.01511.x     Document Type: Editorial

References (32)

1. Low NCP, Cui L, Merikangas KR. Sex differences in the transmission of migraine. Cephalalgia 2007 27 : 935 42.
2. Ferrari MD. Migraine. Lancet 1998 351 : 1043 51.
3. Colson NJ, Fernandez F, Lea RA, Griffiths LR. The search for migraine genes: an overview of current knowledge. Cell Mol Life Sci 2007 64 : 331 44.
4. Ferrari MD, Goadsby PJ. Migraine as a cerebral ionopathy with abnormal central sensory processing. In : Gilman S, ed. Neurobiology of disease. New York : Elsevier 2006 : 333 48.
5. van den Maagdenberg AM, Haan J, Terwindt GM, Ferrari MD. Migraine: gene mutations and functional consequences. Curr Opin Neurol 2007 20 : 299 305.
6. 2+ channel gene CACNL1A4. Cell 1996 87 : 543 52.
7. + pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 2003 33 : 192 6.
8. +-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 2003 54 : 360 6.
9. Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 2005 366 : 371 7.
10. Sanchez-Del-Rio M, Reuter U, Moskowitz MA. New insights into migraine pathophysiology. Curr Opin Neurol 2006 19 : 294 8.
11. Lauritzen M. Pathophysiology of the migraine aura. The spreading depression theory. Brain 1994 117 : 199 210.
12. Bolay H, Reuter U, Dunn AK, Huang Z, Boas DA, Moskowitz MA. Intrinsic brain activity triggers trigeminal meningeal afferents in a migraine model. Nat Med 2002 8 : 136 42.
13. Knight YE, Bartsch T, Kaube H, Goadsby PJ. P/Q-type calcium-channel blockade in the periaqueductal gray facilitates trigeminal nociception: a functional genetic link for migraine? J Neurosci 2002 22 : RC213.
14. Shields KG, Storer RJ, Akerman S, Goadsby PJ. Calcium channels modulate nociceptive transmission in the trigeminal nucleus of the cat. Neuroscience 2005 135 : 203 12.
15. Vahedi K, Massin P, Guichard JP, Miocque S, Polivka M, Goutières F et al. Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. Neurology 2003 60 : 57 63.
16. Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005 308 : 1167 71.
17. Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 2006 354 : 1489 96.
18. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996 383 : 707 10.
19. Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D et al. Truncations in the carboxyl-terminus of human 3′-5′ DNA exonuclease TREX1 cause retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007 39 : 1068 70.
20. Weil S, Reifenberger G, Dudel C, Yousry TA, Schriever S, Noachtar S et al. Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. Neurology 1999 53 : 629 31.
21. Storimans CW, Van Schooneveld MJ, Oosterhuis JA, Bos PJ. A new autosomal dominant vascular retinopathy syndrome. Eur J Ophthalmol 1991 1 : 73 8.
22. Jen J, Cohen AH, Yue Q, Stout JT, Vinters HV, Nelson S, Baloh RW. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology 1997 49 : 1322 30.
23. Grand MG, Kaine J, Fulling K, Atkinson J, Dowton SB, Farber M et al. Cerebroretinal vasculopathy. A new hereditary syndrome. Ophthalmology 1988 95 : 649 59.
24. Cohn AC, Kotschet K, Veitch A, Delatycki MB, McCombe MF. Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. Clin Experiment Ophthalmol 2005 33 : 181 3.
25. Terwindt GM, Haan J, Ophoff RA, Groenen SM, Storimans CW, Lanser JB et al. Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. Brain 1998 121 : 303 16.
26. Hottenga JJ, Vanmolkot KR, Kors EE, Kheradmand Kia S, de Jong PT, Haan J et al. The 3p21.1-p21.3 hereditary vascular retinopathy locus increases the risk for Raynaud's phenomenon and migraine. Cephalalgia 2005 25 : 1168 72.
27. Chowdhury D, Beresford PJ, Zhu P, Zhang D, Sung JS, Demple B et al. The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death. Mol Cell 2006 23 : 133 42.
28. Martinvalet D, Zhu P, Lieberman J. Granzyme A induces caspase-independent mitochondrial damage, a required first step for apoptosis. Immunity 2005 22 : 355 70.
29. Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet 2006 38 : 917 20.
30. Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med 2007 85 : 531 7.
31. Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet 2007 80 : 811 5.
32. Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 2007 39 : 1065 7.