检索结果-南通市图书馆

Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant:a case report

引用

Translational Neurodegeneration 2016年第1期5卷 181-185页

作者： Alexander Schulz Franziska Wagner martin ungelenk Ingo Kurth Christoph Redecker Hans Berger Department of Neurology Jena University HospitalFriedrich Schiller University JenaJena 07747Germany Department of Genetics and Program in Cellular Neuroscience Neurodegeneration and RepairYale University School of MedicineNew HavenCT 06510USA Institute of Human Genetics Jena University HospitalFriedrich-Schiller-University JenaJena 07743Germany Institute of Human Genetics Uniklinik RWTH AachenAachen 52074Germany

Background:Acute-onset neurodegenerative diseases in older patients are rare clinical cases,especially when the degeneration only affects specific regions of the nervous *** neurological disorders have been described in which the degeneration of brain parenchyma originates from and/or primarily affects the brain *** diagnosis in these patients,however,is often complicated due to a poor understanding of these diseases and their underlying *** presentation:In this manuscript we report on a 73-year-old female who had experienced a sudden onset of complex neurological symptoms that progressively worsened over a period of 2 *** evaluation had suggested a MRI-negative stroke as underlying *** combination of patient’s medical history,clinical examination and exceptional pattern of brain stem degeneration presenting as“kissing swan sign”in MR imaging was strongly suggestive of acute onset of Alexander’s *** leukoencephalopathy is caused by GFAP(glial fibrilary acidic protein)gene mutations and may present with brain stem atrophy and stroke-like onset of symptoms in elderly ***,a pathognomonic GFAP gene mutation could not be identified by Sanger ***:After an extended differential diagnosis and exclusion of other diseases,a definite diagnosis of the patient’s condition presently remains ***,whole-exome sequencing performed from patient’s blood revealed 12 potentially disease-causative heterozygous variants,amongst which several have been associated with neurological disorders in vitro and in vivo–in particular the axon degeneration-related NMNAT2 gene.

关键词： Brain stem atrophy Dementia Alexander’s disease Whole-exome sequencing Kissing swan sign NMNAT2 Axon degeneration

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：