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表 1 SOD1基因突变型与ALS临床表现
临床表现 基因型 典型下运动神经元受损 A4V、L84V、G93C、D101N 缓慢的病程 G37R、G41D、L144S、L144F 快速进展的病程 A4T、N86S、L106V、V148G 晚期发病 G85R、H46R 早期发病 G37R、L38V、L106V 女性多见 G41D 球部起病 D76Y、V148I、I151T 四肢远端起病 H46R、G93C 外显率低 D90A、I113T 散发性ALS D90A、I113T、G72S、E133del ALS:肌萎缩侧索硬化 
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表 2 已知与家族性肌萎缩侧索硬化有关的基因和基因位点
ALS亚型 基因 基因座 蛋白 ALS 1 SOD1 21q22. 11 SOD1 ALS 2 (少年型) ALSIN 2q33-q35 Alsin ALS 3 (常染色体显性) 未知 18q21 未知 ALS 4 SETX 9q34 Senataxin ALS 5 未知 15q15. 1-q21. 1 未知 ALS 6 FUS 16p11. 2 FUS ALS 7 未知 20p13 未知 ALS 8 VAPB 20q13 VAPB ALS 9 ANG 14q11. 1-q11. 2 ANG ALS 10 TARDBP 1p36. 22 TDP-43 ALS 11 FIG 4 6q21 聚磷酸肌醇磷酸盐 ALS 12 OPTN 10p14 Optineurin ALS 13 ATXN2 12q23-q24. 1 Ataxin-2 ALS-X UBQLN2 Xp11. 21 Ubiquilin-2 ALS合并额颞叶痴呆 C9FOR72 9p21. 1 功能不明 ALS合并包涵体肌病 VCP 9p13 移行的内质网ATP酶 ALS:同表 1
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