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
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TLDR
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.About:
This article is published in Cell.The article was published on 1996-11-01 and is currently open access. It has received 2264 citations till now. The article focuses on the topics: Familial hemiplegic migraine & Spinocerebellar ataxia type 6.read more
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Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine
B. B. A. de Vries,T. Freilinger,K R J Vanmolkot,Jan B. Koenderink,AH Stam,G.M. Terwindt,Elena Babini,E. H. van den Boogerd,J. J. M. W. van den Heuvel,Rune R. Frants,Joost Haan,Michael Pusch,A.M.J.M. van den Maagdenberg,M. D. Ferrari,Martin Dichgans +14 more
TL;DR: The findings reinforce the hypothesis that FHM, SHM, and “normal” migraine are part of a disease spectrum with shared pathogenetic mechanisms.
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Beyond neurovascular: migraine as a dysfunctional neurolimbic pain network.
TL;DR: A neurolimbic model of migraine is proposed to help bridge a gap in understanding the migraine attack, the interictal dysfunctions of episodic migraine, the progression to chronic migraine, and the common comorbidities with other disorders (such as fibromyalgia, irritable bowel syndrome, and mood and anxiety disorders), which may also be considered neurolimBic.
Journal ArticleDOI
Familial benign recurrent vertigo.
TL;DR: Familial BRV seems to be a migraine syndrome, probably inherited in an autosomal dominant fashion with decreased penetrance in men, and two-thirds of relatives with BRV met the diagnostic criteria for migraine and the majority reported that they had a typical migraine headache with at least some of their episodes of vertigo.
Journal ArticleDOI
A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3
D. Soragna,Andrea Vettori,Gianni Carraro,Enrico Marchioni,Giovanni Vazza,S. Bellini,Rossella Tupler,Rossella Tupler,Faustino Savoldi,Maria Luisa Mostacciuolo +9 more
TL;DR: Clinical and molecular data from a large Italian pedigree in which migraine without aura (MO) segregates as an autosomal dominant trait are reported, indicating the first evidence of a genetic locus associated with MO on chromosome 14.
Journal ArticleDOI
Basilar-type migraine: clinical, epidemiologic, and genetic features.
TL;DR: There is no firm clinical, epidemiologic, or genetic evidence that BM is an independent disease entity different from MTA, and basilar-type aura seemingly may occur at times in any patient with migraine with typical aura.
References
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TL;DR: In this article, the authors used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect, which is expanded and unstable on HD chromosomes.
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
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TL;DR: The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
Journal ArticleDOI
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
TL;DR: It is found that most single base changes in up to 200-base fragments could be detected as mobility shifts and the interspersed repetitive sequences of human, Alu repeats are highly polymorphic.
Journal ArticleDOI
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Harry T. Orr,Ming Yi Chung,Sandro Banfi,Thomas J. Kwiatkowski,Antonio Servadio,Arthur L. Beaudet,Alanna E. McCall,Lisa A. Duvick,Laura P.W. Ranum,Huda Y. Zoghbi +9 more
TL;DR: There is a direct correlation between the size of the (CAG)n repeat expansion and the age–of–onset of SCA1, with larger alleles occurring in juvenile cases.