Literature DB >> 15122720

Molecular epidemiology of spinocerebellar ataxia type 6.

Kate Craig1, Sharon M Keers, Kate Archibald, Ann Curtis, Patrick F Chinnery.   

Abstract

We performed a population-based clinical and molecular genetic study of spinocerebellar ataxia type 6 (SCA6) in the northeast of England. The minimum point prevalence of SCA6 was 1.59 in 100,000 (95% confidence interval [CI], 1.04-2.14), and the number of individuals who either had SCA6 or are at risk of developing SCA6 was at least 5.21 in 100,000 (95% CI, 4.31-6.10), or 1 in 19,210. Microsatellite analysis of the CACNA1A gene indicated a founder effect for SCA6 within this region.

Entities:  

Mesh：

Year:  2004        PMID： 15122720     DOI： 10.1002/ana.20110

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  15 in total

Review 1.  Molecular pathogenesis of spinocerebellar ataxia type 6.

Authors:  Holly B Kordasiewicz; Christopher M Gomez
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

2.  A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.

Authors:  Katherine E Hekman; Guo-Yun Yu; Christopher D Brown; Haipeng Zhu; Xiaofei Du; Kristina Gervin; Dag Erik Undlien; April Peterson; Giovanni Stevanin; H Brent Clark; Stefan M Pulst; Thomas D Bird; Kevin P White; Christopher M Gomez
Journal:  Hum Mol Genet       Date:  2012-09-21       Impact factor: 6.150

3.  An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron.

Authors:  Yu Miyazaki; Xiaofei Du; Shin-Ichi Muramatsu; Christopher M Gomez
Journal:  Sci Transl Med       Date:  2016-07-13       Impact factor: 17.956

Review 4.  Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

Authors:  Sanjeev Rajakulendran; Diego Kaski; Michael G Hanna
Journal:  Nat Rev Neurol       Date:  2012-01-17       Impact factor: 42.937

Review 5.  The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.

Authors:  Katherine E Hekman; Christopher M Gomez
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-08-18       Impact factor: 10.154

Review 6.  A systematic review of the incidence and prevalence of long-term neurological conditions in the UK.

Authors:  Thomas Hoppitt; Hardev Pall; Mel Calvert; Paramjit Gill; Guiqing Yao; Jill Ramsay; Gill James; Jacky Conduit; Cath Sackley
Journal:  Neuroepidemiology       Date:  2010-11-17       Impact factor: 3.282

7.  Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6.

Authors:  M I Falcon; C M Gomez; E E Chen; A Shereen; A Solodkin
Journal:  Cereb Cortex       Date:  2015-07-24       Impact factor: 5.357

Review 8.  Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies.

Authors:  Benjamin R Underwood; David C Rubinsztein
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

9.  Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6.

Authors:  Patrick Yu-Wai-Man; Grainne Gorman; David E Bateman; R John Leigh; Patrick F Chinnery
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

10.  Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6.

Authors:  Lynn Rochester; Brook Galna; Sue Lord; Dadirayi Mhiripiri; Gail Eglon; Patrick F Chinnery
Journal:  Mov Disord       Date:  2013-12-03       Impact factor: 10.338
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