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Patterns and modulations of Pendular nystagmus in a family with hereditary spastic paraplegia.遗传性痉挛性截瘫一家系中钟摆型眼球震颤的模式和调制。
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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.痉挛性截瘫基因 7 在痉挛和/或视神经病变患者中的作用。
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A founder mutation p.H701P identified as a major cause of SPG7 in Norway.在挪威，一种被鉴定为SPG7主要病因的奠基者突变p.H701P。
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Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.痉挛性截瘫 7 型的基因型-表型相关性：一项大型荷兰队列研究。
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Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.一名日本痉挛性共济失调患者中新型纯合SPG7突变的鉴定：利用外显子组测序对常染色体隐性小脑共济失调和痉挛性截瘫进行高效诊断
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Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.遗传性痉挛性截瘫和其他痉挛性截瘫遗传疾病的眼科变化。
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本文引用的文献
1
Hereditary spastic paraplegia.遗传性痉挛性截瘫。
Neurol Sci. 2021 Mar;42(3):883-894. doi: 10.1007/s10072-020-04981-7. Epub 2021 Jan 13.
2
Eye Movement Disorders and the Cerebellum.眼动障碍与小脑。
J Clin Neurophysiol. 2019 Nov;36(6):405-414. doi: 10.1097/WNP.0000000000000579.
3
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with .在一个包含 241 名. 患者的队列中，缺失 paraplegin 导致痉挛，而非共济失调。
Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
5
SPG7 mutations are a common cause of undiagnosed ataxia.痉挛性截瘫7型（SPG7）基因突变是未确诊共济失调的常见病因。
Neurology. 2015 Mar 17;84(11):1174-6. doi: 10.1212/WNL.0000000000001369. Epub 2015 Feb 13.
6
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.痉挛性截瘫 7 型的基因型-表型相关性：一项大型荷兰队列研究。
Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10.
7
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.一种由新的SPG7突变引起的常染色体隐性遗传性痉挛性截瘫的新形式。
Neurology. 2007 Jul 24;69(4):368-75. doi: 10.1212/01.wnl.0000266667.91074.fe.
8
Dynamic modification of the vestibulo-ocular reflex by the nodulus and uvula.小结和蚓垂对前庭眼反射的动态调节
Science. 1985 Apr 12;228(4696):199-202. doi: 10.1126/science.3871968.
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