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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Genetics of migraine in the age of genome-wide association studies.
TL;DR: Three genome-wide association studies are available now and have successfully identified four new genetic variants associated with migraine, one of which modulates glutamate homeostasis, thus integrates well with current concepts of neurotransmitter disturbances.
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Insights from mouse models into the molecular basis of neurodegeneration.
Nathaniel Heintz,Huda Y. Zoghbi +1 more
TL;DR: What has been learned about the pathogenesis of "triplet repeat" diseases through mouse models for spinocerebellar ataxia types 1 and 3 and Huntington disease is discussed, including the roles of nuclear aggregates and protein cleavage.
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Vertigo as a Symptom of Migraine
TL;DR: Vestibular migraine presents with attacks of spontaneous or positional vertigo lasting seconds to days, and the pathogenesis of VM is uncertain, but migraine mechanisms may interfere with the vestibular system at the labyrinth, brainstem, and cerebral cortex.
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Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus.
Keith W. Jones,Margaret G. Ehm,Margaret A. Pericak-Vance,Jonathan L. Haines,Pete R. Boyd,Stephen J. Peroutka +5 more
TL;DR: In this paper, a locus on chromosome 19p13 was found to contribute to the genetic susceptibility of both rare familial hemiplegic migraine (FHM) and more common types of migraine, migraine with aura and migraine without aura.
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Association of the insertion/deletion polymorphism of the angiotensin I-converting enzyme gene in patients of migraine with aura.
Hisanori Kowa,Emi Fusayasu,Tamami Ijiri,Kumiko Ishizaki,Kenichi Yasui,Kazuhiro Nakaso,Masayoshi Kusumi,Takao Takeshima,Kenji Nakashima +8 more
TL;DR: The results support the conclusion that the D allele and the D/D genotype in the ACE gene is a genetic risk factor for Japanese MwA and a possible relationship between ACE activity and the pathogenesis of migraine.
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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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.
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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.
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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.