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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Classification of primary headaches.
TL;DR: An overview of the revised IHS classification of Headache Disorders is presented, highlighting the primary headache disorders and their diagnostic criteria, and an approach to headache diagnosis based upon these criteria is presented.
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CADASIL: a review with proposed diagnostic criteria.
TL;DR: The disease is highly homogeneous on a genetic basis and the identification of the gene Notch 3 on chromosome 19 has opened new avenues for research and genetic counselling, but the pathogenesis of the disease has still to be elucidated.
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Clinical and molecular features of spinocerebellar ataxia type 6
Giovanni Stevanin,Alexandra Durr,Gilles David,Olivier Didierjean,Géraldine Cancel,S. Rivaud,Ayman Tourbah,J.-M. Warter,Yves Agid,Alexis Brice +9 more
TL;DR: Clinically, SCA6 patients presented with moderate to severe cerebellar ataxia with a lower frequency of associated signs compared with other SCA and a mean age at onset of 45± 14 years (range, 24 to 67).
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The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
Cowan Wm,Harter Dh,Kandel Er +2 more
TL;DR: Factors that led to the convergence into a common discipline of the traditional fields of neurophysiology, neuroanatomy, neurochemistry, and behavior are reviewed and seminal roles played by David McKenzie Rioch, Francis O Schmitt, and especially Stephen W Kuffler are emphasized.
Journal ArticleDOI
Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake
Boukje de Vries,Hafsa Mamsa,Anine H. Stam,Jijun Wan,Stef L. M. Bakker,Kaate R J Vanmolkot,Joost Haan,Gisela M. Terwindt,Elles M. J. Boon,Bruce D. Howard,Rune R. Frants,Robert W. Baloh,Michel D. Ferrari,Joanna C. Jen,Arn M. J. M. van den Maagdenberg +14 more
TL;DR: The clinical spectrum associated with SLC1A3 mutations was broadened to include milder manifestations of EA without seizures or alternating hemiplegia, and the severity of EA6 symptoms appears to be correlated with the extent of glutamate transporter dysfunction.
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.
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.