D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
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DOI：
10.1212/wnl.47.5.1336
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发表时间：
1996-11-01
期刊：
影响因子：
9.9
通讯作者：
Matthijs, G
中科院分区：
文献类型：
--
作者：
Robberecht, W;Aguirre, T;Matthijs, G
与家族性ALS相关的SOD1基因的所有突变都表现为显性性状。然而，一个突变，引起天冬氨酸丙氨酸取代密码子90（D90A），据报道，仅诱导运动神经元疾病的纯合子个体在斯堪的纳维亚人口。我们描述了两个家庭与ALS和一个明显散发ALS患者谁是杂合子的D90A突变。1例患者具有局灶性非进展性运动神经元病的异常表型。
All mutations in the SOD1 gene associated with familial ALS behave as dominant traits. One mutation, however, giving rise to an aspartic acid to alanine substitution in codon 90 (D90A), was reported only to induce motor neuron disease in homozygous individuals in the Scandinavian population. We describe two families with ALS and one apparently sporadic ALS patient who are heterozygous for the D90A mutation. One patient had the unusual phenotype of focal nonprogressing motor neuron disease.