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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Spinocerebellar ataxia type 6: Gaze‐evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
Christopher M. Gomez,Randall Thompson,Jason T. Gammack,Susan Perlman,William B. Dobyns,Charles L. Truwit,David S. Zee,H. Brent Clark,John H. Anderson +8 more
TL;DR: Clinical and quantitative measurement of extraocular movements demonstrated a characteristic pattern of ocular motor and vestibular abnormalities, including horizontal and vertical nystagmus and an abnormal vestibulo‐ocular reflex, which identifies a distinct phenotype associated with this newly recognized form of dominant SCA.
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Recent advances in understanding migraine mechanisms, molecules and therapeutics
TL;DR: Brain imaging studies have firmly established reproducible changes in the brainstem in regions that include areas that are involved in sensory modulation, leading to the view that migraine is a form of sensory dysmodulatio--a system failure of normal sensory processing.
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Polyglutamine diseases: emerging concepts in pathogenesis and therapy
Jieya Shao,Marc I. Diamond +1 more
TL;DR: This article reviews the emerging concepts in pathogenesis and therapy of polyglutamine diseases and the role of proteolytic cleavage, the importance of conformational change in the pathogenic proteins, the roles of protein aggregation and the importanceof transcriptional and metabolic disturbances.
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Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) or cranial autonomic features (SUNA)—a prospective clinical study of SUNCT and SUNA
TL;DR: A new set of diagnostic criteria for these syndromes is proposed to better encompass the clinical presentations and which include a wider range of attack length, wider trigeminal pain distribution, cutaneous triggering and lack of refractory period.
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Structural basis of drug binding to L Ca2+ channels
Jörg Striessnig,Manfred Grabner,Jörg Mitterdorfer,Steffen Hering,Martina J. Sinnegger,Hartmut Glossmann +5 more
TL;DR: The present knowledge about the molecular architecture of L channel drug-binding domains and the implications for Ca2+ channel pharmacology and drug development are summarized.
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.
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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.