Abstract:
:In this study of patients with spontaneous cervical artery dissections (sCAD) we searched for mutations in ABCC6, the candidate gene for Pseudoxanthoma elasticum (PXE). Genomic DNA samples from 12 sCAD patients with pronounced electron microscopic alterations in their dermal connective tissue and from 2 patients with PXE were analysed. One patient with PXE was compound heterozygous for two missense point mutations, in the second patient with PXE we did not find changes in the ABCC6 gene. We observed several missense mutations (H623Q, R3190W and R1268Q) in the patients with sCAD, but these mutations were not disease specific,since they were also detected in a series of 25 healthy control subjects.The finding of several sequence variants in sCAD patients and of disease causing mutations in one of the PXE patients suggests that our strategy of mutation search is reliable. Since we did not find disease causing mutations in our series of patients with sCAD we suggest that ABCC6 is not a candidate gene for sCAD.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Morcher M,Hausser I,Brandt T,Grond-Ginsbach Cdoi
10.1007/s00415-003-1139-4keywords:
subject
Has Abstractpub_date
2003-08-01 00:00:00pages
983-6issue
8eissn
0340-5354issn
1432-1459journal_volume
250pub_type
杂志文章abstract::In Huntington's disease (HD) atrophy of the caudate nucleus and putamen has been described many years before clinical manifestation. Volume changes of the pallidum, thalamus, brainstem, accumbens nucleus, hippocampus, and amygdala are less well investigated, or reported with contradicting results. The aim of our study...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章
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更新日期:1991-09-01 00:00:00
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pub_type: 信件
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更新日期:2009-06-01 00:00:00
abstract::Central nervous system localizations of sarcoidosis may be refractory to conventional treatment such as steroids and immunosuppressive drugs. Infliximab, a TNF-α antagonist chimeric antibody, has been shown to be effective for treatment of these localizations. The aim of this study was to evaluate the efficacy and saf...
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更新日期:2017-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:2012-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1007/s00415-020-10140-x
更新日期:2021-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:1989-09-01 00:00:00
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更新日期:2014-10-01 00:00:00
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pub_type: 杂志文章
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313005
更新日期:1979-01-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00866909
更新日期:1995-10-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
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更新日期:2012-09-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-007-0641-5
更新日期:2007-12-01 00:00:00
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pub_type: 杂志文章,随机对照试验
doi:10.1007/s00415-016-8277-y
更新日期:2016-12-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-007-2004-7
更新日期:2007-05-01 00:00:00
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journal_title:Journal of neurology
pub_type: 社论,评审
doi:10.1007/BF02033352
更新日期:1994-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1007/s00415-014-7333-8
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journal_title:Journal of neurology
pub_type: 杂志文章
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pub_type: 杂志文章,评审
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更新日期:2006-09-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9095-1
更新日期:2018-12-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5624-2
更新日期:2010-11-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5764-4
更新日期:2011-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:2018-10-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2005-10-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2000-12-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7665-z
更新日期:2015-01-01 00:00:00
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journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2011-07-01 00:00:00