期刊论文详细信息
Acta Neuropathologica Communications
Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology
Stefan Prokop1  Jennifer Adamson1  S. H. Subramony2  Benoit I. Giasson3  Amanda N. Sacino3  Meggen A. Walsh4  Anthony T. Yachnis4  Amy Krans5  Peter K. Todd5 
[1] Center for Translational Research in Neurodegenerative Disease, University of Florida;Department of Neurology, College of Medicine, University of Florida;Department of Neuroscience, College of Medicine, University of Florida;Department of Pathology, College of Medicine, University of Florida;VA Ann Arbor Healthcare Center;
关键词: FXTAS;    PSP;    RAN-translation;   
DOI  :  10.1186/s40478-019-0818-z
来源: DOAJ
【 摘 要 】

Abstract Co-occurrence of multiple neuropathologic changes is a common phenomenon, most prominently seen in Alzheimer’s disease (AD) and Parkinson’s disease (PD), complicating clinical diagnosis and patient management. Reports of co-occurring pathological processes are emerging in the group of genetically defined repeat-associated non-AUG (RAN)-translation related diseases. Here we report a case of Fragile X-associated tremor-ataxia syndrome (FXTAS) with widespread and abundant nuclear inclusions of the RAN-translation related FMRpolyG-peptide. In addition, we describe prominent neuronal and glial tau pathology representing changes seen in progressive supranuclear palsy (PSP). The highest abundance of the respective pathological changes was seen in distinct brain regions indicating an incidental, rather than causal correlation.

【 授权许可】

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