Abstract:
:We report here a novel point mutation in exon 5 of the Cu/Zn superoxide dismutase (SOD) gene resulting in an amino acid substitution of valine(148) by isoleucine (V148I) in a Japanese family with amyotrophic lateral sclerosis (FALS). In this family, the age at onset was young (28.0 ± 3.8 years old, mean ± SD, n = 4) and the disease progression was rapid (22.0 ± 5.9 months, n = 3) with low Cu/Zn SOD activity (56.3 and 59.0% of the controls, n = 2). It is interesting that the clinical features of ALS varied very much among the affected members. One case had weakness of the lower extremities at first, and died without bulbar paresis. The second case first noticed wasting of the upper limbs with bulbar symptoms, but the third had weakness of upper extremities without developing dysarthria nor dysphagia until death. The living remainder first developed fasciculation of the tongue without weakness of extremities. The valine(148) is conserved among different species, and V148I mutation might destabilize dimer formation with another SOD subunit, leading to decrease enzymatic activity. These results suggested that there could be considerable clinical variance among the patients of FALS within one family, carrying the same Cu/Zn SOD mutation such as V148I.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Sakuma R,Abe K,Aoki M,Ikeda M,Okita N,Hiwatari M,Sakurai M,Itoyama Ydoi
10.1111/j.1468-1331.1995.tb00141.xsubject
Has Abstractpub_date
1995-09-01 00:00:00pages
369-74issue
4eissn
1351-5101issn
1468-1331journal_volume
2pub_type
杂志文章abstract:INTRODUCTION:Limited information is available about the impact of seizures on stroke outcome, health care delivery and resource utilization. OBJECTIVE:To determine whether the presence of seizures after stroke increases disability, mortality and health care utilization (length of hospital stay, ICU admission, consults...
journal_title:European journal of neurology
pub_type: 杂志文章,多中心研究
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更新日期:2010-01-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2009.02720.x
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abstract:BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder mediated by antibodies against the acethylcholine receptor (AchR) of the neuromuscular junction in the majority of patients. METHODS: Here, we examined IgG antibodies against the type 1 nuclear antigen of Epstein-Barr virus (EBNA-1) in the sera of 158 patien...
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
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更新日期:1995-07-01 00:00:00
abstract::We report a novel missense mutation of the Notch3 gene in a Japanese family with CADASIL. The Cys49Gly mutation in this family is located in exon 2 of the Notch3 gene. Most of the documented Notch3 gene mutations occur in exons 3 or 4. On the other hand, there are few reports around the world of mutations in exon 2 of...
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,实务指引
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2011.03379.x
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Patients with ischaemic stroke (IS) caused by a spontaneous cervical artery dissection (CeAD) worry about an increased risk for stroke in their families. The occurrence of stroke in relatives of patients with CeAD and in those with ischaemic stroke attributable to other (non-CeAD) causes were com...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12437
更新日期:2014-08-01 00:00:00
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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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更新日期:2020-12-03 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2011.03411.x
更新日期:2011-11-01 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:1999-03-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13273
更新日期:2017-05-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12716
更新日期:2015-07-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2004.00865.x
更新日期:2004-10-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12427
更新日期:2014-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE: Multiple sclerosis (MS) has been associated with increased mortality rates. However, influence of lifestyle parameters remains unknown, and inconsistencies exist regarding findings for causes of death. METHODS: We conducted a population-based cohort study using the General Practice Research D...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2012.03668.x
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND AND PURPOSE:A Consensus document on palliative care and neurology has made recommendations on the care of people with chronic and progressive neurological disease. This study aimed to investigate whether these recommendations are understood by, acceptable to and used in practice by neurologists in Belgium. ...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13325
更新日期:2017-07-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01219.x
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12615
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.1468-1331.2007.01986.x
更新日期:2007-12-01 00:00:00
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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
abstract:BACKGROUND AND PURPOSE:Predicting the course of behavioural variant frontotemporal dementia (bvFTD) remains a major clinical challenge. This study aimed to identify factors that predict survival and clinical progression in bvFTD. METHODS:Consecutive patients with clinically probable bvFTD were prospectively followed u...
journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.13887
更新日期:2019-05-01 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:2020-09-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.12137
更新日期:2014-05-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章,评审
doi:10.1046/j.1468-1331.2001.00328.x
更新日期:2001-11-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14215
更新日期:2020-07-01 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:2019-08-01 00:00:00
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journal_title:European journal of neurology
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
doi:10.1046/j.1468-1331.2002.00416.x
更新日期:2002-07-01 00:00:00