scholarly journals Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes

2019 ◽  
Vol 9 (12) ◽  
Author(s):  
Xinsheng Han ◽  
Miao Han ◽  
Ning Liu ◽  
Jianke Xu ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Adult Onset ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion ◽  
Mri Changes

Clinical analysis of adult-onset neuronal intranuclear inclusion disease

2019 ◽  
Vol 405 ◽  
pp. 71-72
Author(s):  
Y. Harigaya ◽  
M. Ikeda ◽  
H. Oka ◽  
S. Aoki ◽  
K. Mizushima ◽  
...  
Keyword(s):  
Clinical Analysis ◽  
Adult Onset ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion

Cutaneous Findings of Sporadic, Adult-Onset Neuronal Intranuclear Inclusion Disease

2021 ◽  
Vol 44 (1) ◽  
pp. 1-6
Author(s):  
Jakob M. T. Moran ◽  
Katharina Eikermann-Haerter ◽  
Otto Rapalino ◽  
Timothy M. Dang ◽  
Robert K. Holmes ◽  
...  
Keyword(s):  
Adult Onset ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion

Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease

2019 ◽  
Vol 56 (11) ◽  
pp. 758-764 ◽  
Author(s):  
Jianwen Deng ◽  
Muliang Gu ◽  
Yu Miao ◽  
Sheng Yao ◽  
Min Zhu ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Electron Microscopic Observation ◽  
Chinese Patients ◽  
Sweat Glands ◽  
Adult Onset ◽  
Intranuclear Inclusion ◽  
Electron Microscopic ◽  
Juvenile Onset ◽  
Long Read ◽  
Neuronal Intranuclear Inclusion

BackgroundNeuronal intranuclear inclusion disease (NIID) is a heterogenous neurodegenerative disorder named after its pathological features. It has long been considered a disease of genetic origin. Recently, the GGC repeated expansion in the 5′-untranslated region (5′UTR) of the NOTCH2NLC gene has been found in adult-onset NIID in Japanese individuals. This study was aimed to investigate the causative mutations of NIID in Chinese patients.MethodsFifteen patients with NIID were identified from five academic neurological centres. Biopsied skin samples were analysed by histological staining, immunostaining and electron microscopic observation. Whole-genome sequencing (WGS) and long-read sequencing (LRS) were initially performed in three patients with NIID. Repeat-primed PCR was conducted to confirm the genetic variations in the three patients and the other 12 cases.ResultsOur patients included 14 adult-onset patients and 1 juvenile-onset patient characterised by degeneration of multiple nervous systems. All patients were identified with intranuclear inclusions in the nuclei of fibroblasts, fat cells and ductal epithelial cells of sweat glands. The WGS failed to find any likely pathogenic variations for NIID. The LRS successfully identified that three patients with adult-onset NIID showed abnormalities of GGC expansion in 5′UTR of the NOTCH2NLC gene. The GGC repeated expansion was further confirmed by repeat-primed PCR in seven familial cases and eight sporadic cases.ConclusionOur findings provided evidence that confirmed the GGC repeated expansion in the 5′UTR of the NOTCH2NLC gene is associated with the pathogenesis of NIID. Additionally, the GGC expansion was not only responsible for adult-onset patients, but also responsible for juvenile-onset patients.

Expanding the clinical spectrum of adult-onset neuronal intranuclear inclusion disease

2021 ◽  
Author(s):  
Yuwen Cao ◽  
Jingying Wu ◽  
Yunhua Yue ◽  
Chao Zhang ◽  
Shihua Liu ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Adult Onset ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion
Sign in / Sign up

Export Citation Format

Share Document