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

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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

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