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3 results on '"Muliang Gu"'

1. Unraveling rare form of adult-onset NIID by characteristic brain MRI features: A single-center retrospective review

Author

Fan Li, Qi Wang, Ying Zhu, Jiangxi Xiao, Muliang Gu, Jiaxi Yu, Jianwen Deng, Wei Sun, and Zhaoxia Wang

Subjects
neuronal intranuclear inclusion disease (NIID), MRI, ribbon sign, leukoencephalopathy, myopathy, Neurology. Diseases of the nervous system, RC346-429
Abstract

Adult-onset neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with high clinical heterogeneity. Previous studies indicated that the high-intensity signals in the corticomedullary junction on diffusion-weighted imaging (DWI) on brain MRI, known as the “ribbon sign,” could serve as a strong diagnostic clue. Here we used the explorative approach to study the undiagnosed rate of adult-onset NIID in a single center in China via searching for the ribbon sign in picture archive and communication system (PACS) and report the clinical and radiological features of initially undiagnosed NIID patients.Consecutive brain MRI of 21,563 adult individuals (≥18 years) in the PACS database in 2019 from a tertiary hospital were reviewed. Of them, 4,130 were screened out using the keywords “leukoencephalopathy” and “white matter demyelination.” Next, all 4,130 images were read by four neurologists. The images with the suspected ribbon sign were reanalyzed by two neuroradiologists. Those with the ribbon sign but without previously diagnosed NIID were invited for skin biopsy and/or genetic testing for diagnostic confirmation. The clinical features of all NIID patients were retrospectively reviewed.Five patients with high-intensity in the corticomedullary junction on DWI were enrolled. Three patients were previously diagnosed with NIID confirmed by genetic or pathological findings and presented with episodic encephalopathy or cognitive impairment. The other two patients were initially diagnosed with limb-girdle muscular dystrophy (LGMD) with rimmed vacuoles (RVs) and normal pressure hydrocephalus (NPH) in one each. Genetic analysis demonstrated GGC repeat expansion in the NOTCH2NLC gene of both, and skin biopsy of the first patient showed the presence of intranuclear hyaline inclusion bodies. Thus, five of the 21,563 adult patients (≥18 years) were diagnosed with NIID. The distinctive subcortical high-intensity signal on DWI was distributed extensively throughout the lobes, corpus callosum, basal ganglia, and brainstem. In addition, T2-weighted imaging revealed white matter hyperintensity of Fazekas grade 2 or 3, atrophy, and ventricular dilation. Distinctive DWI hyperintensity in the junction between the gray and white matter can help identify atypical NIID cases. Our findings highly suggest that neurologists and radiologists should recognize the characteristic neuroimaging pattern of NIID.

Published
2022
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2. Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease

Author

Wei Sun, Pu Fang, Jun Zhang, Zhaoxia Wang, Sheng Yao, Muliang Gu, Yun Yuan, Xue-Fan Yu, Min Zhu, Jing Bai, Yanan Su, Yining Huang, Jianwen Deng, Jiaxi Yu, Fan Li, Jian Huang, Pidong Li, Daojun Hong, and Yu Miao

Subjects
0301 basic medicine, Untranslated region, Pathology, medicine.medical_specialty, Five prime untranslated region, business.industry, Disease, Pathogenesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Genetic variation, Genetics, Medicine, business, Gene, Pathological, 030217 neurology & neurosurgery, Genetics (clinical), Immunostaining
Abstract

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.

Published
2019
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3. Long-read sequencing identified repeat expansions in the 5'UTR of the

Author

Jianwen, Deng, Muliang, Gu, Yu, Miao, Sheng, Yao, Min, Zhu, Pu, Fang, Xuefan, Yu, Pidong, Li, Yanan, Su, Jian, Huang, Jun, Zhang, Jiaxi, Yu, Fan, Li, Jing, Bai, Wei, Sun, Yining, Huang, Yun, Yuan, Daojun, Hong, and Zhaoxia, Wang

Subjects
Adult, Cell Nucleus, Male, Adolescent, Biopsy, Intranuclear Inclusion Bodies, Brain, Genetic Variation, Epithelial Cells, Neurodegenerative Diseases, Fibroblasts, Middle Aged, Pedigree, Asian People, Humans, Female, Receptor, Notch2, 5' Untranslated Regions, Aged, Microsatellite Repeats, Retrospective Studies
Abstract

Neuronal 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 theFifteen 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.Our 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 theOur findings provided evidence that confirmed the GGC repeated expansion in the 5'UTR of the

Published
2019

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