TARDBP基因G298S突变型家族性肌萎缩侧索硬化症：脑脊液中tau蛋白水平与散发性肌萎缩侧索硬化症的比较
Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS.
作者信息
Nozaki Ichiro, Arai Makoto, Takahashi Kazuya, Hamaguchi Tsuyoshi, Yoshikawa Hiroaki, Muroishi Toyoteru, Noguchi-Shinohara Moeko, Ito Hiroki, Itokawa Masanari, Akiyama Haruhiko, Kawata Akihiro, Yamada Masahito
机构信息
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
出版信息
Intern Med. 2010;49(12):1209-12. doi: 10.2169/internalmedicine.49.3300. Epub 2010 Jun 15.
We report a 52-year-old Japanese man showing both upper and lower motor neuron signs with familial amyotrophic lateral sclerosis (ALS). Analysis of the TAR DNA-binding protein of 43 kDa (TDP-43) gene (TARDBP) revealed a glycine-to-serine substitution at position 298 (G298S). Cerebrospinal fluid (CSF) level of total tau protein (CSF-tau) of our patient was found to be highly elevated compared with those of sporadic ALS cases and controls. The elevated CSF-tau level might be related to the damage of neurons exhibiting a large number of TDP-43 inclusions in familial ALS with this mutation.
我们报告了一名52岁的日本男性，其患有家族性肌萎缩侧索硬化症（ALS），同时表现出上运动神经元和下运动神经元体征。对43 kDa的TAR DNA结合蛋白（TDP-43）基因（TARDBP）的分析显示，第298位发生了甘氨酸到丝氨酸的替换（G298S）。我们发现，与散发性ALS病例和对照组相比，该患者的脑脊液（CSF）中总tau蛋白（CSF-tau）水平显著升高。CSF-tau水平升高可能与该突变型家族性ALS中出现大量TDP-43包涵体的神经元损伤有关。
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