Journal ArticleDOI
Migraine genetics: an update.
Joost Haan,E. E. Kors,Kaate R J Vanmolkot,Arn M. J. M. van den Maagdenberg,Rune R. Frants,Michel D. Ferrari +5 more
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TLDR
Functional studies show a dysfunction in ion transport as the key factor in the pathophysiology of (familial hemiplegic) migraine that predict an increased susceptibility to cortical spreading depression—the underlying mechanism of migraine aura.Abstract:
A growing interest in genetic research in migraine has resulted in the identification of several chromosomal regions that are involved in migraine. However, the identification of mutations in the genes for familial hemiplegic migraine (FHM) forms the only true molecular genetic knowledge of migraine thus far. The increased number of mutations in the FHM1 (CACNA1A) and the FHM2 (ATP1A2) genes allow studying the relationship between genetic findings in both genes and the clinical features in patients. A wide spectrum of symptoms is seen in patients. Additional cerebellar ataxia and (childhood) epilepsy can occur in FHM1 and FHM2. Functional studies show a dysfunction in ion transport as the key factor in the pathophysiology of (familial hemiplegic) migraine that predict an increased susceptibility to cortical spreading depression—the underlying mechanism of migraine aura.read more
Citations
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Journal ArticleDOI
The brain is hyperexcitable in migraine.
SK Aurora,Frances Wilkinson +1 more
TL;DR: This is a review of the neurophysiological studies which have provided an insight to migraine pathogenesis supporting the theory of hyperexcitability.
Journal ArticleDOI
High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.
Arn M. J. M. van den Maagdenberg,Tommaso Pizzorusso,Simon Kaja,Nicole A. Terpolilli,Maryna Shapovalova,Freek E. Hoebeek,Curtis F. Barrett,Lisa Gherardini,Rob C. G. van de Ven,Boyan Todorov,Ludo A. M. Broos,Angelita Tottene,Zhenyu Gao,Mariann Fodor,Chris I. De Zeeuw,Chris I. De Zeeuw,Rune R. Frants,Nikolaus Plesnila,Jaap J. Plomp,Daniela Pietrobon,Michel D. Ferrari +20 more
TL;DR: The CACNA1A gene encodes the pore‐forming subunit of neuronal CaV2.1 Ca2+ channels that causes a dramatic hemiplegic migraine syndrome that is associated with ataxia, seizures, and severe, sometimes fatal, brain edema often triggered by only a mild head trauma.
Journal ArticleDOI
Familial hemiplegic migraine.
TL;DR: The functional studies of two FHM1 knockin mice and of several FHM mutants in heterologous expression systems show that the FHM data support a key role of CSD in migraine pathogenesis and point to cortical hyperexcitability as the basis for vulnerability to CSD and to migraine attacks.
Journal ArticleDOI
CaV2.1 channelopathies.
TL;DR: The review describes different ataxic spontaneous cacna1a mouse mutants and the important insights into the cerebellar mechanisms underlying motor dysfunction caused by mutant CaV2.1 channels that were obtained from their functional characterization.
Journal ArticleDOI
Interictal alterations of the trigeminal somatosensory pathway and periaqueductal gray matter in migraine.
Alexandre F. M. DaSilva,Cristina Granziera,David S. Tuch,Josh Snyder,Maurice Vincent,Nouchine Hadjikhani +5 more
TL;DR: The results indicate the presence of permanent interictal changes in migraineurs, pointing to an effect of migraine on the trigeminal somatosensory and modulatory pain systems.
References
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Journal ArticleDOI
The International Classification of Headache Disorders: 2nd edition
Journal ArticleDOI
A Report on the Journal 2004
TL;DR: From this issue Cephalalgia will become a monthly journal and has a strong throughput of excellent work and rather than raise the rejection rate, and somewhat arbitrarily dismiss work that readers might be very interested in seeing, it is timely to increase to 12 issues a year.
Journal ArticleDOI
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
Roel A. Ophoff,Gisela M. Terwindt,Monique N. Vergouwe,Ronald van Eijk,Peter J. Oefner,Susan M.G. Hoffman,Jane Lamerdin,Harvey W. Mohrenweiser,Dennis E. Bulman,Maurizio Ferrari,Joost Haan,Dick Lindhout,Gert-Jan B. van Ommen,Marten H. Hofker,Michel D. Ferrari,Rune R. Frants +15 more
TL;DR: A brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons is characterized, revealing polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG) n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2.
Journal ArticleDOI
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel
Olga Zhuchenko,Jennifer Bailey,Penelope E. Bonnen,T. Ashizawa,T. Ashizawa,David W. Stockton,Christopher I. Amos,William B. Dobyns,S. H. Subramony,Huda Y. Zoghbi,Cheng Chi Lee +10 more
TL;DR: It is concluded that a small polyglutamine expansion in the human α1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.
Journal ArticleDOI
Pathophysiology of the migraine aura. The spreading depression theory.
TL;DR: The combined experimental and clinical studies point to fruitful areas in which to look for migraine treatments of the future and provide a framework within which important aspects of the migraine attack can be modelled.