A 62-Year-Old Woman with Spastic Ataxia and Eye Movement Abnormalities.
作者信息
Macerollo Antonella, Martino Davide
机构信息
Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London United Kingdom.
Department of Basic Medical Sciences, Neuroscience and Sense Organs Aldo Moro University of Bari Bari Italy.
出版信息
Mov Disord Clin Pract. 2015 Sep 1;3(1):100-101. doi: 10.1002/mdc3.12227. eCollection 2016 Jan-Feb.
Abstract
摘要
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本文引用的文献
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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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SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.对痉挛性截瘫患者的 SPG7 突变筛查支持某些突变的显性效应，以及 p.A510V 的致病性作用。
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Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.遗传性痉挛性截瘫：临床特征与发病机制
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