Abstract:
:Hyperekplexia is a rare, autosomal dominant neurological disorder characterized by hypertonia, especially in infancy, and by an exaggerated startle response. This disorder is caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). We previously reported two GLRA1 point mutations detected in 4 unrelated hyperekplexia families; both mutations were at nucleotide 1192 and resulted in the replacement of Arg271 by a glutamine (R271Q) in one case and a leucine (R271L) in the other. Here, 5 additional hyperekplexia families are shown to have the most common G-to-A transition mutation at nucleotide 1192. Haplotype analysis using polymorphisms within and close to the GLRA1 locus suggests that this mutation has arisen at least twice (and possibly four times). In 2 additional families, a third mutation is also presented that changes a tyrosine at amino acid 279 to a cysteine (Y279C). Five patients with atypical clinical features and equivocal or absent family history of hyperekplexia and 1 patient with a classical presentation but not family history are presented in whom a mutation in the GLRA1 gene was not detected. Thus, only clinically typical hyperekplexia appears to be consistently associated with GLRA1 mutations, and these affect a specific extracellular domain of the protein.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Shiang R,Ryan SG,Zhu YZ,Fielder TJ,Allen RJ,Fryer A,Yamashita S,O'Connell P,Wasmuth JJdoi
10.1002/ana.410380115subject
Has Abstractpub_date
1995-07-01 00:00:00pages
85-91issue
1eissn
0364-5134issn
1531-8249journal_volume
38pub_type
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journal_title:Annals of neurology
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更新日期:2008-12-01 00:00:00
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doi:10.1002/ana.410320513
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abstract::To clarify the influence of gastric emptying on levodopa-related motor fluctuations in Parkinson's disease, we assessed mobility and plasma levodopa concentrations in 10 patients during five modes of levodopa administration: (1) standard intermittent oral (SIO), (2) intermittent duodenal (ID), (3) continuous duodenal ...
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doi:10.1002/ana.410230611
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370515
更新日期:1995-05-01 00:00:00
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journal_title:Annals of neurology
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doi:10.1002/ana.21680
更新日期:2009-07-01 00:00:00
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pub_type: 杂志文章,评审
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journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410350204
更新日期:1994-02-01 00:00:00
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journal_title:Annals of neurology
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pub_type: 杂志文章,多中心研究
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journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:1996-03-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21012
更新日期:2006-11-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410210611
更新日期:1987-06-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20081
更新日期:2004-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1002/ana.410120306
更新日期:1982-09-01 00:00:00
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journal_title:Annals of neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1002/ana.410410304
更新日期:1997-03-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1002/ana.23613
更新日期:2012-10-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20110
更新日期:2004-05-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1002/ana.410090703
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doi:10.1002/ana.410140414
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journal_title:Annals of neurology
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doi:10.1002/ana.410110602
更新日期:1982-06-01 00:00:00
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journal_title:Annals of neurology
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更新日期:2002-08-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:1978-04-01 00:00:00
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journal_title:Annals of neurology
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更新日期:1993-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:1996-04-01 00:00:00
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更新日期:2012-12-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1002/ana.410360728
更新日期:1994-01-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199904)45:4<461::aid-ana7>3.0.co
更新日期:1999-04-01 00:00:00