Atypical -Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation.
作者信息
Cif Laura, Kurian Manju A, Gonzalez Victoria, Garcia-Ptacek Sara, Roujeau Thomas, Gelisse Philippe, Moura de Ribeiro Ana Maria, Crespel Arielle, MacPherson Lesley, Coubes Philippe
机构信息
Département de Neurochirurgie CHRU Montpellier Hôpital Gui de Chauliac Montpellier France.
INSERM, U661 Montpellier France.
出版信息
Mov Disord Clin Pract. 2014 May 23;1(2):128-131. doi: 10.1002/mdc3.12030. eCollection 2014 Jun.
Abstract
摘要
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本文引用的文献
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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.外显子组测序揭示 WDR45 突变导致表型不同的 X 连锁显性形式的 NBIA。
Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21.
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Status dystonicus: predictors of outcome and progression patterns of underlying disease.僵人综合征：结局预测因子和潜在疾病的进展模式。
Mov Disord. 2012 May;27(6):783-8. doi: 10.1002/mds.24981. Epub 2012 Apr 6.
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Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation.一名患有PANK2突变的患者采用苍白球刺激治疗肌张力障碍风暴。
Mov Disord. 2011 Apr;26(5):921-2. doi: 10.1002/mds.23586. Epub 2011 Mar 21.
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Mol Genet Metab. 2010 Jun;100(2):207-12. doi: 10.1016/j.ymgme.2010.02.009. Epub 2010 Feb 16.
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Clinical and genetic delineation of neurodegeneration with brain iron accumulation.脑铁沉积性神经退行性变的临床与遗传学特征
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Characterization of PLA2G6 as a locus for dystonia-parkinsonism.将磷脂酶A2G6鉴定为肌张力障碍-帕金森综合征的一个基因座。
Ann Neurol. 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415.
7
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).与PLA2G6基因（PLAN）突变相关的神经退行性变的表型谱
Neurology. 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986.48286.8e.
8
Infantile neuroaxonal dystrophy: what's most important for the diagnosis?婴儿神经轴索性营养不良：诊断的关键要点是什么？
Eur J Paediatr Neurol. 2008 Nov;12(6):491-500. doi: 10.1016/j.ejpn.2008.01.005. Epub 2008 Mar 21.
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PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.编码磷脂酶A2的PLA2G6在脑铁含量高的神经退行性疾病中发生突变。
Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18.
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