Hereditary Diffuse Leucoencephalopathy and Spheroids Resulting From a Mutation in : A Rare Cause of Parkinsonism.
作者信息
Molloy Anna, Williams Laura, Farrell Michael, O'Riordan Sean
机构信息
Department of Neurology St Vincent's University Hospital Dublin Ireland.
Department of Neuropathology Beaumont Hospital Dublin Ireland.
出版信息
Mov Disord Clin Pract. 2014 May 17;1(2):132-133. doi: 10.1002/mdc3.12033. eCollection 2014 Jun.
Abstract
摘要
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本文引用的文献
1
Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.遗传性弥漫性脑白质病伴腔隙（HDLS）和 CSF1R 突变患者的帕金森特征。
Parkinsonism Relat Disord. 2013 Oct;19(10):869-77. doi: 10.1016/j.parkreldis.2013.05.013. Epub 2013 Jun 17.
2
"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide."非典型" 帕金森综合征：具有进行性核上性麻痹、皮质基底节变性或多系统萎缩特征的新的遗传疾病——诊断指南。
Mov Disord. 2013 Aug;28(9):1184-99. doi: 10.1002/mds.25509. Epub 2013 May 29.
3
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.CSF1R 基因突变导致遗传性弥漫性脑白质病变伴硬化症。
Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027.
4
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.遗传性弥漫性脑白质病伴轴索性球体（HDLS）：一种被误诊的疾病实体。
J Neurol Sci. 2012 Mar 15;314(1-2):130-7. doi: 10.1016/j.jns.2011.10.006. Epub 2011 Nov 1.
5
Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study.散发型脑白质病伴轴索性神经球体：弥散加权成像改变和神经认知特征的持续性：病例研究。
J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):619-22. doi: 10.1136/jnnp.2008.169243. Epub 2010 Feb 22.
6
Diffusion-weighted MR imaging in leukodystrophies.脑白质营养不良的磁共振扩散加权成像
Eur Radiol. 2005 Nov;15(11):2284-303. doi: 10.1007/s00330-005-2846-2. Epub 2005 Jul 15.
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