超氧化物歧化酶1中的G93C突变:临床病理表型和预后  

The G93C mutation in superoxide dismutase 1:Clinicopathologic phenotype and prognosis

作　　者：Régal L. Vanopdenbosch L. Tilkin P. W. Robberecht 邱伟庆 

机构地区：[1]Department of Neurology, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2006年第6期16-16,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Background: Twenty percent of familial amyotrophic lateral sclerosis (ALS) is caused by mutations in the superoxide dismutase 1 gene (SOD1). Few data exist on their clinicopathologic phenotypes. Objectives: To determine the clinical and pathologic phenotype associated with the G93C mutation in SOD1 and to compare survival in familial ALS related to this mutation with survival in other ALS subgro ups. Design: Retrospective study. Setting: Tertiary referral center for neuromus cular disorders. Patients: Twenty patients with the G93C mutation for whom clini cal data were available and 1 patient with pathologic data. Main Outcome Measure s: Characteristics and survival compared with other ALS subgroups, adjusting for known prognostic factors. Results: The G93C mutation was associated with a pure ly lower motor neuron phenotype without bulbar involvement. Presence of the muta tion independently predicted longer survival compared with other ALS subgroups. Pathologic examination showed degeneration of the anterior horn, spinocerebellar tracts, and posterior funiculi, with minimal involvement of corticospinal tract s and no degeneration of brainstem motor nuclei. Survival motor neuron gene copy number had no significant influence on age at onset or survival in patients wit h the G93C mutation. Conclusions: These findings add to the knowledge of SOD1-r elated familial ALS and demonstrate further clinicopathologic variability betwee n different SOD1 mutations. Finally, they demonstrate the independent prognostic value of the G93C mutation.Background： Twenty percent of familial amyotrophic lateral sclerosis （ALS） is caused by mutations in the superoxide dismutase 1 gene （SOD1） . Few data exist on their clinicopathologic phenotypes. Objectives： To determine the clinical and pathologic phenotype associated with the G93C mutation in SOD1 and to compare survival in familial ALS related to this mutation with survival in other ALS subgroups. Design： Retrospective study. Setting： Tertiary referral center for neuromuscular disorders. Patients： Twenty patients with the G93C mutation for whom clinical data were available and 1 patient with pathologic data. Main Outcome Measures： Characteristics and survival compared with other ALS subgroups, adjusting for known prognostic factors. Results： The G93C mutation was associated with a purely lower motor neuron phenotype without bulbar involvement. Presence of the mutation independently predicted longer survival compared with other ALS subgroups. Pathologic examination showed degeneration of the anterior horn, spinocerebellar tracts, and posterior funiculi, with minimal involvement of corticospinal tracts and no degeneration of brainstem motor nuclei. Survival motor neuron gene copy number had no significant influence on age at onset or survival in patients with the G93C mutation. Conclusions： These findings add to the knowledge of SODl-related familial ALS and demonstrate further clinicopathologic variability between different SOD 1 mutations. Finally, they demonstrate the independent prognostic value of the G93C mutation.

关 键 词：超氧化物歧化酶 临床病理 预后因素 肌萎缩侧索硬化(ALS) 突变 表型 下运动神经元 神经肌肉疾病 预测价值 脊髓小脑束 

分 类 号：R285.5[医药卫生—中药学] R735.2[医药卫生—中医学]