肌萎缩侧索硬化症中的D90A-SOD1突变：意大利杂合子患者的首例报告及异常发现。
D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings.
作者信息
Giannini Fabio, Battistini Stefania, Mancuso Michelangelo, Greco Giuseppe, Ricci Claudia, Volpi Nila, Del Corona Alberto, Piazza Selina, Siciliano Gabriele
机构信息
Departments of Neurosciences, University of Siena, Italy.
出版信息
Amyotroph Lateral Scler. 2010;11(1-2):216-9. doi: 10.3109/17482960902721642.
Among the 140 Cu/Zn superoxide dismutase-1 (SOD1) gene mutations associated with ALS, only D90A, the most prevalent mutation in Europe, has been clearly shown to cause recessive and dominant ALS. Here we first describe two, apparently sporadic, Italian ALS patients heterozygous for the D90A mutation. One patient experienced early sensory involvement, confirmed by nerve biopsy. We review sensory symptoms in SOD1 ALS and discuss its possible origin in D90A heterozygous patients.
在与肌萎缩侧索硬化症（ALS）相关的140种铜/锌超氧化物歧化酶-1（SOD1）基因突变中，只有欧洲最常见的D90A突变已被明确证明会导致隐性和显性ALS。在此，我们首次描述了两名携带D90A突变杂合子的意大利ALS患者，他们显然是散发病例。其中一名患者出现早期感觉受累，经神经活检证实。我们回顾了SOD1型ALS中的感觉症状，并讨论了其在D90A杂合子患者中可能的起源。
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