Abstract:
:Autosomal dominant cerebellar ataxias (ADCAs) are a complex group of slowly progressive neurodegenerative disorders characterized by gait and stance ataxia, dysarthria and other symptoms of nervous system involvement. ADCA type I is the commonest form and is genetically heterogeneous; several loci have been identified. Spinocerebellar ataxia type 2 (SCA2) has been mapped to chromosome 12, with expanded cytosine-adenine-guanine (CAG) repeats being identified as the mutational cause of the disease. We investigated 15 families, all originating from mid-eastern Sicily, with ADCA type I; molecular studies performed in 12 families showed the SCA2 mutation to be present in 11 of them (91.6%) - the highest occurrence so far reported in the literature. The CAG repeat of the affected alleles varied between 34 and 44 repeats. Age at onset and repeat length revealed an inverse correlation. Mean age at onset was 37.32 +/- 16. 74 years, and occurred earlier in males than in females. There were no differences in mean CAG repeat units between the sexes. However, a higher instability of CAG repeats was observed for paternal transmission than for maternal transmission. Age at onset and anticipation were not related to parental transmission. Our data suggest that in SCA2 an unknown sex-linked factor may play a role in the modulation of toxic effects of the polyglutamine tract.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Giuffrida S,Lanza S,Restivo DA,Saponara R,Valvo SC,Le Pira F,Trovato Salinaro A,Spinella F,Nicoletti A,Condorelli DFdoi
10.1046/j.1468-1331.1999.630301.xsubject
Has Abstractpub_date
1999-05-01 00:00:00pages
301-7issue
3eissn
1351-5101issn
1468-1331pii
NE060308journal_volume
6pub_type
杂志文章abstract:BACKGROUND AND PURPOSE:Dysphagia occurs in up to 50% of all patients with acute stroke. There is debate regarding which is the most effective screening tool in identifying aspiration in patients with acute stroke. We assessed the accuracy of the Sapienza Global Bedside Evaluation of Swallowing after Stroke (GLOBE-3S), ...
journal_title:European journal of neurology
pub_type: 杂志文章
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更新日期:2019-04-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.2000.00139.x
更新日期:2000-11-01 00:00:00
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journal_title:European journal of neurology
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更新日期:2010-05-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01467.x
更新日期:2006-08-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
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更新日期:2021-02-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13657
更新日期:2018-08-01 00:00:00
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更新日期:2010-06-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
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更新日期:2017-02-01 00:00:00
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journal_title:European journal of neurology
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更新日期:2015-03-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2012.03839.x
更新日期:2013-03-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
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更新日期:2007-11-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
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更新日期:2014-04-01 00:00:00
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pub_type: 共识发展会议,杂志文章,实务指引
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更新日期:2010-03-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14737
更新日期:2021-01-16 00:00:00
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journal_title:European journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1468-1331.2002.00500.x
更新日期:2002-11-01 00:00:00
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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更新日期:2008-04-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章,实务指引
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更新日期:2010-12-01 00:00:00
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更新日期:2017-10-01 00:00:00
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更新日期:2020-07-01 00:00:00
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journal_title:European journal of neurology
pub_type: 临床试验,杂志文章
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更新日期:2000-03-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
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更新日期:2019-07-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
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更新日期:1999-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:2009-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2011-05-01 00:00:00
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更新日期:2020-07-01 00:00:00