SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management

ANDREW EISEN; MICHELLE M. MEZEI; HEATHER G. STEWART; MARIFE FABROS; GILLAN GIBSON; PETER M. ANDERSEN

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SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management

机译：加拿大不列颠哥伦比亚省的ALS患者中SOD1基因突变：临床特征，神经生理学和管理中的道德问题

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Two hundred and fifty-four ALS patients from British Columbia, Canada were screened for mutations in the gene encoding the enzyme superoxide dismutase type 1 (SOD1). Thirteen patients (5.1%) carried one of six missense mutations (A4V, G72C, D76Y, D90A, C111Y, I113T). Mutations were found both in sporadic and familial ALS cases. Atypical clinical features delayed diagnosis in some cases. The demographic and clinical features of the mutation carrying index cases are summarized, and compared with those of screened patients without mutations. The phenotypic variability between SOD1 mutation carrying patients in this study is dramatic, even among patients with the same mutation This underlines the hypothesis that ALS is a biologically heterogeneous disorder in which genetics, environment and ageing all interrelate to form the final clinical phenotype.

机译：筛选了来自加拿大不列颠哥伦比亚省的254例ALS患者的编码超氧化物歧化酶1型（SOD1）的基因中的突变。 13名患者（5.1％）携带了6个错义突变之一（A4V，G72C，D76Y，D90A，C111Y，I113T）。在散发性和家族性ALS病例中均发现了突变。非典型临床特征在某些情况下延误了诊断。总结了携带突变的病例的人口统计学和临床特征，并与经筛选的无突变的患者进行了比较。即使在具有相同突变的患者中，该研究中携带SOD1突变的患者之间的表型变异也是巨大的。这突显了以下假设：ALS是一种生物学上异质的疾病，其中遗传，环境和衰老都相互关联以形成最终的临床表型。

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《Amyotrophic lateral sclerosis eofficial publication of the World Federation of Neurology Research Group on Motor Neuron Diseases》 |2008年第2期|共12页
作者
ANDREW EISEN; MICHELLE M. MEZEI; HEATHER G. STEWART; MARIFE FABROS; GILLAN GIBSON; PETER M. ANDERSEN;
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正文语种 eng
中图分类神经病学;
关键词
Amyotrophic lateral sclerosis; SOD1; genetic testing; presymptomatic testing;

机译：肌萎缩性侧索硬化症;SOD1;基因检测;症状前检测;

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1. SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management [J] . ANDREW EISEN, MICHELLE M. MEZEI, HEATHER G. STEWART, Amyotrophic lateral sclerosis eofficial publication of the World Federation of Neurology Research Group on Motor Neuron Diseases . 2008,第2期

机译：加拿大不列颠哥伦比亚省的ALS患者中SOD1基因突变：临床特征，神经生理学和管理中的道德问题
2. A Bird's Eye View of Northern Coast Salish Intertidal Resource Management Features, Southern British Columbia, Canada [J] . Caldwell M.E., Lepofsky D., Combes G., Journal of island and coastal archaeology . 2012,第2期

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4. Geochemical Characterization, Water Quality Modeling and Adaptive Management Planning at the Kemess North Mine, British Columbia, Canada [C] . Bevin Harrison, Rob Marsland International Conference on Acid Rock Drainage(ICARD) and Securing the Future: Mining, Metals and the Environment in a Sustainable Society . 2010

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5. Unmanned Aerial System (UAS) and Structure From Motion (SfM) 3-Dimensional Modeling of Intertidal Archaeological Features in Fulford Harbour, Saltspring Island, British Columbia, Canada [D] . Laidlaw, Shawn 2017

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6. Cross-Canada Disease Report •rapport Des Maladies Diagnostiquées Au Canada: British Columbia. Management-related piglet mortality [O] . Neil P. Palechek, Don McIntosh 1937

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7. Gertler, Len. Habitat and Land. Human Settlement Issues 1. Vancouver: University of British Columbia Press, 1978, Pp. xi, 42. Tables, illustrations Seidler, Harry. Planning and Building Down Under. Human Settlement Issues 2. Vancouver: University of British Columbia Press, 1978. Pp. x, 37. Illustrations Anthony, Harry Antoniades. The Challenge of Squatter Settlements, with Special Reference to the Cities of Latin America. Human Settlement Issues 3. Vancouver: University of British Columbia Press, 1979. Pp. xi, 76. Tables, figures, illustrations Lichfield, Nathaniel. Settlement Planning and Development: A Strategy for Land Policy. Human Settlement Issues 4. Vancouver: University of British Columbia Press, 1980. Pp. 52. Figures, illustrations Robinson, Ira M. Canadian Urban Growth Trends: Implications for a National Settlement Policy. Human Settlement Issues 5. Vancouver: University of British Columbia Press, 1981. Pp. xvii, 154. Tables, figures, illustrations Jacobs, Peter. Environmental Strategy and Action: The Challenge of the World Conservation Strategy. Human Settlement Issues 6. Vancouver: University of British Columbia Press, 1981. Pp. xviii, 99. Maps, illustrations [O] . McGahan, Peter 1983

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SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management

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