| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
From the Departments of Neurology (Drs. Gardner and Hoffman), Human Genetics (Mr. Barmada and Dr. Hoffman), Molecular Genetics and Biochemistry and Pediatrics (Dr. Hoffman), University of Pittsburgh School of Medicine, PA; and the Departments of Neurology and Human Genetics (Dr. Ptacek),
Address correspondence and reprint requests to Dr. Kathy Gardner, Department of Neurology, University of Pittsburgh, S-514 Biomedical Science Tower, Pittsburgh, PA 15213.
A single familial hemiplegic migraine locus has been previously mapped to 19p13.1 and associated with mutations in a calcium channel gene (CACNL1A4). We describe a new 39-member four-generation family from Wyoming of German-Native American descent with autosomal dominant familial hemiplegic migraine that is not linked to the chromosome 19p locus. Affected individuals showed a stereotypic pattern of migrainous headache associated with hemisensory and hemiparetic attacks, without other headache types. Eighty-three percent reported minor head trauma as a trigger for individual attacks. Seventy-two percent reported other typical migraine triggers for the attacks. Attack frequency decreased with age and the overall course was benign. Genetic linkage studies of this family found strong evidence for the disease gene in this family being located at chromosome 1q31. Multipoint analysis showed lod scores >3 in a 44-cm region flanked by D1S158 and D1S2781, using 80% penetrance and a phenocopy rate of 1/50. Haplotype and multipoint analysis, including flanking markers, suggested incomplete penetrance and variable expressivity of the disease. A single affected patient who reports atypical symptoms including daily headaches likely represents a phenocopy. This new locus for hemiplegic migraine suggests that mutations of additional calcium channels in the region may cause the disease.
Supported in part by NIH grants NS 34193 (E.P.H.), NS32711 (L.J.P.), and Public Health Service grant no. MO1-RR00064 (L.J.P.).
Received March 31, 1997. Accepted in final form June 21, 1997.
This article has been cited by other articles:
|
|
 |
|
  B. de Vries, T. Freilinger, K.R.J. Vanmolkot, J. B. Koenderink, A. H. Stam, G. M. Terwindt, E. Babini, E. H. van den Boogerd, J. J.M.W. van den Heuvel, R. R. Frants, et al. Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine Neurology, December 4, 2007; 69(23): 2170 - 2176. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Lee, J. C. Jen, H. Wang, Z. Chen, H. Mamsa, C. Sabatti, R. W. Baloh, and S. F. Nelson A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity Hum. Mol. Genet., January 15, 2006; 15(2): 251 - 258. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Jurkat-Rott, T. Freilinger, J. P. Dreier, J. Herzog, H. Gobel, G. C. Petzold, P. Montagna, T. Gasser, F. Lehmann-Horn, and M. Dichgans Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants Neurology, May 25, 2004; 62(10): 1857 - 1861. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Z. M. Cader, S. Noble-Topham, D. A. Dyment, S. S. Cherny, J. D. Brown, G. P.A. Rice, and G. C. Ebers Significant linkage to migraine with aura on chromosome 11q24 Hum. Mol. Genet., October 1, 2003; 12(19): 2511 - 2517. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Carlsson, L. Forsgren, P.-O. Nylander, U. Hellman, K. Forsman-Semb, G. Holmgren, D. Holmberg, and M. Holmberg Identification of a susceptibility locus for migraine with and without aura on 6p12.2-p21.1 Neurology, December 10, 2002; 59(11): 1804 - 1807. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. L. Thomsen, M. K. Eriksen, S. F. Roemer, I. Andersen, J. Olesen, and M. B. Russell A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria Brain, June 1, 2002; 125(6): 1379 - 1391. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Terwindt, E. Kors, J. Haan, F. Vermeulen, A. van den Maagdenberg, R. Frants, M. Ferrari, and for the International Hemiplegic Migraine Research Mutation Analysis of the CACNA1A Calcium Channel Subunit Gene in 27 Patients With Sporadic Hemiplegic Migraine Arch Neurol, June 1, 2002; 59(6): 1016 - 1018. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Ducros, C. Denier, A. Joutel, M. Cecillon, C. Lescoat, K. Vahedi, F. Darcel, E. Vicaut, M.-G. Bousser, and E. Tournier-Lasserve The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel N. Engl. J. Med., July 5, 2001; 345(1): 17 - 24. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G.J. Hademenos, M.J. Alberts, I. Awad, M. Mayberg, T. Shephard, A. Jagoda, R.E. Latchaw, H.W. Todd, K. Viste, R. Starke, et al. Advances in the genetics of cerebrovascular disease and stroke Neurology, April 24, 2001; 56(8): 997 - 1008. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Gervil, V. Ulrich, J. Kaprio, J. Olesen, and M. B. Russell The relative role of genetic and environmental factors in migraine without aura Neurology, September 1, 1999; 53(5): 995 - 995. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. Carrera, M. Piatti, S. Stenirri, L. M. E. Grimaldi, E. Marchioni, M. Curcio, P. G. Righetti, M. Ferrari, and C. Gelfi Genetic heterogeneity in Italian families with familial hemiplegic migraine Neurology, July 1, 1999; 53(1): 26 - 26. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Battistini, S. Stenirri, M. Piatti, C. Gelfi, P. G. Righetti, R. Rocchi, F. Giannini, N. Battistini, G. C. Guazzi, M. Ferrari, et al. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia Neurology, July 1, 1999; 53(1): 38 - 38. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M.G. Benatar Calcium channelopathies QJM, March 1, 1999; 92(3): 133 - 141. [Full Text] [PDF]
|
|
|
|
 |
|
 V. Ulrich, M. Gervil, K. O Kyvik, J. Olesen, and M. B Russell The inheritance of migraine with aura estimated by means of structural equation modelling J. Med. Genet., March 1, 1999; 36(3): 225 - 227. [Abstract] [Full Text]
|
|
|
|
 |
|
 M. G HANNA, N. W WOOD, and D. M KULLMANN Ion channels and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders J. Neurol. Neurosurg. Psychiatry, October 1, 1998; 65(4): 427 - 431. [Full Text]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
