Infantile Ascending Hereditary Spastic Paralysis with Extrapyramidal and Extraocular Manifestations Associated with a Novel Mutation.
作者信息
Madhaw Govind, Kumar Niraj, M Radhakrishnan Divya, Shree Ritu
机构信息
Department of Neurology All India Institute of Medical Sciences Rishikesh India.
Department of Neurology All India Institute of Medical Sciences New Delhi India.
出版信息
Mov Disord Clin Pract. 2021 Nov 28;9(1):118-121. doi: 10.1002/mdc3.13372. eCollection 2022 Jan.
Abstract
摘要
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Neurol Sci. 2018 Nov;39(11):1917-1925. doi: 10.1007/s10072-018-3526-8. Epub 2018 Aug 21.
2
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.ALS2基因中的一种新型剪接位点突变，确诊了一个患有早发性构音障碍和全身性肌张力障碍的家族中的青少年肌萎缩侧索硬化症。
PLoS One. 2014 Dec 4;9(12):e113258. doi: 10.1371/journal.pone.0113258. eCollection 2014.
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ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.ALS2 突变：青少年型肌萎缩侧索硬化症和全身性肌张力障碍。
Neurology. 2014 Mar 25;82(12):1065-7. doi: 10.1212/WNL.0000000000000254. Epub 2014 Feb 21.
4
Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.婴儿起病的进行性遗传性痉挛性截瘫：一例病例报告并文献复习
Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi: 10.1016/j.ejpn.2013.09.009. Epub 2013 Oct 9.
5
Wilson's disease.威尔逊氏病
Handb Clin Neurol. 2011;100:681-709. doi: 10.1016/B978-0-444-52014-2.00049-5.
6
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.婴儿期起病的上行性遗传性痉挛性麻痹与alsin基因突变有关。
Am J Hum Genet. 2002 Sep;71(3):518-27. doi: 10.1086/342359. Epub 2002 Jul 26.
7
Infantile onset of hereditary ascending spastic paralysis with bulbar involvement.伴有延髓受累的遗传性上行性痉挛性麻痹的婴儿期发病。
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