Isolated Head Tremor as an Initial Presentation of Ataxia with Vitamin E Deficiency: A Case Report.
作者信息
Li Jiaxiang, Lin Zhiru, Jin Nan, Zheng Xiaosheng, Luo Wei
机构信息
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
出版信息
Mov Disord Clin Pract. 2023 Sep 29;10(11):1680-1682. doi: 10.1002/mdc3.13886. eCollection 2023 Nov.
Abstract
摘要
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本文引用的文献
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Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years.巴森-科尔兹韦格综合征的脑深部电刺激：22年后仍有效。
Brain Spine. 2023 Jun 24;3:101762. doi: 10.1016/j.bas.2023.101762. eCollection 2023.
2
Clinical and genetic study of ataxia with vitamin E deficiency: A case report.维生素E缺乏性共济失调的临床与遗传学研究：一例报告
World J Clin Cases. 2022 Aug 16;10(23):8271-8276. doi: 10.12998/wjcc.v10.i23.8271.
3
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia.维生素E缺乏性共济失调可能表现为颈部肌张力障碍。
Tremor Other Hyperkinet Mov (N Y). 2016 May 17;6:374. doi: 10.7916/D8B85820. eCollection 2016.
4
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.对伴有维生素 E 缺乏的共济失调的突尼斯患者进行分子、临床和周围神经病学研究。
Brain. 2014 Feb;137(Pt 2):402-10. doi: 10.1093/brain/awt339. Epub 2013 Dec 25.
5
Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia.深部脑刺激治疗与无β脂蛋白血症相关的震颤和共济失调。
Tremor Other Hyperkinet Mov (N Y). 2012;2. doi: 10.7916/D8542M96. Epub 2012 Jul 2.
6
Ataxia with vitamin E deficiency: update of molecular diagnosis.维生素 E 缺乏性共济失调：分子诊断更新。
Neurol Sci. 2010 Aug;31(4):511-5. doi: 10.1007/s10072-010-0261-1. Epub 2010 May 13.
7
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.单纯维生素E缺乏性共济失调：意大利家族中的神经学表型、临床随访及TTPA基因新突变
Neurol Sci. 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z.
8
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.单纯维生素E缺乏性共济失调：大量家系中的突变异质性和表型变异性
Am J Hum Genet. 1998 Feb;62(2):301-10. doi: 10.1086/301699.
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