Literature DB >> 28853324

A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy.

Keith Pilson1, Michael Farrell2, Bryan Lynch3, Deirdre Devaney1.   

Abstract

Neuronal intranuclear (hyaline) inclusion disease (NIID) is a rare neurodegenerative disorder with a variable clinical presentation and multiple subtypes. We present the clinicopathologic details of a patient with juvenile-onset NIID and discuss the pathogenesis. We also discuss the utility of antemortem skin biopsy which was negative in our case.

Entities:  

Keywords:  hyaline inclusion; inclusions; intranuclear; neurodegenerative; neuronal inclusions; ubiquitination

Mesh：

Year:  2017        PMID： 28853324     DOI： 10.1177/1093526617724293

Source DB:  PubMed          Journal:  Pediatr Dev Pathol        ISSN： 1093-5266


  2 in total

Review 1.  Clinical and mechanism advances of neuronal intranuclear inclusion disease.

Authors:  Yueqi Liu; Hao Li; Xuan Liu; Bin Wang; Hao Yang; Bo Wan; Miao Sun; Xingshun Xu
Journal:  Front Aging Neurosci       Date:  2022-09-13       Impact factor: 5.702

2.  Re-defining the clinicopathological spectrum of neuronal intranuclear inclusion disease.

Authors:  Hao Chen; Likui Lu; Bin Wang; Guiyun Cui; Xingqi Wang; Yujing Wang; Hafiz Khuram Raza; Yan Min; Keke Li; Yingying Cui; Zhigang Miao; Bo Wan; Miao Sun; Xingshun Xu
Journal:  Ann Clin Transl Neurol       Date:  2020-09-15       Impact factor: 4.511
  2 in total

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