Tags

Type your tag names separated by a space and hit enter

Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease.
J Neuropathol Exp Neurol. 2020 12 04; 79(12):1293-1302.JN

Abstract

Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder. This study aimed to investigate clinical, imaging, genetic, and dermatopathological characteristics of a family with adult-onset NIID. The proband was a 62-year-old woman with 3 brothers and 2 sisters. Of these, 4 had symptoms of paroxysmal visual field defect, extrapyramidal symptoms, dysautonomia, emotional changes, and cognitive dysfunction. Genetic examination revealed no abnormality related to cerebrovascular diseases. More than 200 CGG repeats of FMR1 gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) whereas repeats of the proband were found 29 times, which excluded FXTAS. Quantitative reverse transcription polymerase chain reaction (PCR) and GC-rich-PCR identified an expanded GGC repeat (with ∼100 repeats) in the 5' region of NOTCH2NLC in the patient and her 2 younger brothers. Pathological examination found eosinophilic intranuclear inclusions inside adipocytes, fibrocytes, and sweat gland cells. Immunohistochemistry and immunofluorescence staining revealed positive staining for ubiquitin and p62. The detailed pathological and genetic features of this NIID family provide a valuable contribution to the existing knowledge base of this rare disorder.

Authors+Show Affiliations

From the Department of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University.Department of Pathology, The First Affiliated Hospital of Nanjing Medical University.Department of Neurology, Affiliated ZhongDa Hospital, Neuropsychiatric Institute, School of Medicine, Southeast University, Nanjing, Jiangsu.Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.From the Department of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University.From the Department of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University.From the Department of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University.From the Department of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University.From the Department of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

33271601

Citation

Zhang, Shugang, et al. "Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease." Journal of Neuropathology and Experimental Neurology, vol. 79, no. 12, 2020, pp. 1293-1302.
Zhang S, Gong Q, Wu D, et al. Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease. J Neuropathol Exp Neurol. 2020;79(12):1293-1302.
Zhang, S., Gong, Q., Wu, D., Tian, Y., Shen, L., Lu, J., Xu, L., Gu, H., Xu, J., & Liu, W. (2020). Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease. Journal of Neuropathology and Experimental Neurology, 79(12), 1293-1302. https://doi.org/10.1093/jnen/nlaa142
Zhang S, et al. Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease. J Neuropathol Exp Neurol. 2020 12 4;79(12):1293-1302. PubMed PMID: 33271601.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease. AU - Zhang,Shugang, AU - Gong,Qixing, AU - Wu,Di, AU - Tian,Yun, AU - Shen,Lu, AU - Lu,Jie, AU - Xu,Ligang, AU - Gu,Hao, AU - Xu,Jianxia, AU - Liu,Weiguo, PY - 2020/12/3/entrez PY - 2020/12/4/pubmed PY - 2021/3/6/medline KW - Dementia KW - Dysautonomia KW - Genetic characteristics KW - NOTCH2NLC KW - Neuronal intranuclear inclusion disease KW - Pathology SP - 1293 EP - 1302 JF - Journal of neuropathology and experimental neurology JO - J Neuropathol Exp Neurol VL - 79 IS - 12 N2 - Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder. This study aimed to investigate clinical, imaging, genetic, and dermatopathological characteristics of a family with adult-onset NIID. The proband was a 62-year-old woman with 3 brothers and 2 sisters. Of these, 4 had symptoms of paroxysmal visual field defect, extrapyramidal symptoms, dysautonomia, emotional changes, and cognitive dysfunction. Genetic examination revealed no abnormality related to cerebrovascular diseases. More than 200 CGG repeats of FMR1 gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) whereas repeats of the proband were found 29 times, which excluded FXTAS. Quantitative reverse transcription polymerase chain reaction (PCR) and GC-rich-PCR identified an expanded GGC repeat (with ∼100 repeats) in the 5' region of NOTCH2NLC in the patient and her 2 younger brothers. Pathological examination found eosinophilic intranuclear inclusions inside adipocytes, fibrocytes, and sweat gland cells. Immunohistochemistry and immunofluorescence staining revealed positive staining for ubiquitin and p62. The detailed pathological and genetic features of this NIID family provide a valuable contribution to the existing knowledge base of this rare disorder. SN - 1554-6578 UR - https://www.unboundmedicine.com/medline/citation/33271601/Genetic_and_Pathological_Characteristic_Patterns_of_a_Family_With_Neuronal_Intranuclear_Inclusion_Disease_ DB - PRIME DP - Unbound Medicine ER -