ALS,肌萎缩侧索硬化;AOA2,共济失调伴眼动失用 2 型;CMT,腓骨肌萎缩症;dHMN,远端型遗传性运动神经病;FTD,额颞叶痴呆;HSP,遗传性痉挛性截瘫;IBM,包涵体肌病;PDB,paget 骨病;PLS,原发性侧索硬化;PMA,进行性肌萎缩症;SCA2,脊髓小脑性共济失调 2 型。
参考文献:
1.Swinnen B, Robberecht W. The phenotypic variability of amyotrophic lateral sclerosis. Nature reviews Neurology. 2014;10:661-70.
2.Orban P, Devon RS,Hayden MR, Leavitt BR. Chapter 15 Juvenile amyotrophic lateral sclerosis.Handbook of clinical neurology / edited by PJ Vinken and GW Bruyn.
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3. Li HF, Wu ZY.Genotype-phenotype correlations of amyotrophic lateral sclerosis. Translational neurodegeneration. 2016;5:3.
4.Zou ZY, Liu MS, LiXG, Cui LY. The distinctive genetic architecture of ALS in mainland China. Journalof Neurology Neurosurgery Psychiatry. 2015. doi: 10.1136/jnnp-2015-311654.
5. Zou ZY, Liu MS, Li XG, Cui LY. Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotrophic lateral sclerosis and frontotemporal degeneration. 2016;17:249-52.
6.Furtula J, Johnsen B, Frandsen J, Rodell A, Christensen PB, Pugdahl K, et al. Upper motor neuron involvement in amyotrophic lateral sclerosis evaluated by triple stimulation technique and diffusion tensor MRI. Journal of Neurology. 2013;260:1535-44.
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