Periodic Alternating Nystagmus, Ataxia, and Spasticity: A Unique Presentation of Spastic Paraplegia 7-Related Hereditary Spastic Paraplegia.
作者信息
Hickman Jordan L, Lafreniere Marrisa, Bennett Jeffrey L, Forbes Emily, Feuerstein Jeanne
机构信息
Medical Scientist Training Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.
出版信息
Mov Disord Clin Pract. 2024 Apr;11(4):441-443. doi: 10.1002/mdc3.13991. Epub 2024 Feb 23.
Abstract
摘要
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本文引用的文献
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Hereditary spastic paraplegia.遗传性痉挛性截瘫。
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Eye Movement Disorders and the Cerebellum.眼动障碍与小脑。
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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。
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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。
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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。
Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10.
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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。
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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
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