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Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report.
J Neuropathol Exp Neurol. 2019 07 01; 78(7):665-670.JN

Abstract

Neuronal intranuclear inclusion disease (NIID) is a rare heterogeneous progressive neurodegenerative disease characterized by the presence of eosinophilic hyaline intranuclear inclusions in neuronal and glial cells of the CNS, peripheral cells of the autonomic nervous system, visceral organs and skin. The clinical presentation is broadly heterogeneous and includes limb weakness, dementia, seizures, ataxia, and parkinsonism. High-intensity signal in the corticomedullary junction on brain MRI is a characteristic finding in NIID. We describe a 65-year-old patient presenting with mild cognitive impairment, evolving in dementia with behavioral disturbances and parkinsonism. Brain MRI showed mild global cortical atrophy, more pronounced in the cingulate and temporal cortex and mild leukoaraiosis, but no high-intensity signal in corticomedullary junction on diffusion weighted imaging. Neuropathological examination showed p62- and optineurin-positive neuronal intranuclear inclusions in the hippocampus and in some subcortical structures. Glial cells did not present any intranuclear inclusions, and no spongiotic changes proximal to the U-fibers or diffuse myelin pallor were disclosed in the white matter. We report on a case with pathological features of NIID showing different neuroimaging and pathological findings. We noted an absence of typical MRI abnormalities, lack of intranuclear inclusions in glial cells, and prominent involvement of hippocampal neurons, refining the clinico-pathological spectrum of the disease.

Authors+Show Affiliations

Department of Neurology. IRCCS Centro Neurolesi "Bonino Pulejo", Messina, Italy.Department of Pathology, Amsterdam University Medical Centre, Amsterdam Neuroscience, VUmc, Amsterdam, The Netherlands.Department of Neurology.Department of Radiology and Nuclear Medicine. Department of Epidemiology.Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.Department of Pathology, Amsterdam University Medical Centre, Amsterdam Neuroscience, VUmc, Amsterdam, The Netherlands.Department of Neuropathology, DZNE, German Center for Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany.Department of Neurology.Department of Neurology.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

31150092

Citation

Cupidi, Chiara, et al. "Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: a Case Report." Journal of Neuropathology and Experimental Neurology, vol. 78, no. 7, 2019, pp. 665-670.
Cupidi C, Dijkstra AA, Melhem S, et al. Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report. J Neuropathol Exp Neurol. 2019;78(7):665-670.
Cupidi, C., Dijkstra, A. A., Melhem, S., Vernooij, M. W., Severijnen, L. A., Hukema, R. K., Rozemuller, A. J. M., Neumann, M., van Swieten, J. C., & Seelaar, H. (2019). Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report. Journal of Neuropathology and Experimental Neurology, 78(7), 665-670. https://doi.org/10.1093/jnen/nlz043
Cupidi C, et al. Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: a Case Report. J Neuropathol Exp Neurol. 2019 07 1;78(7):665-670. PubMed PMID: 31150092.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report. AU - Cupidi,Chiara, AU - Dijkstra,Anke A, AU - Melhem,Shami, AU - Vernooij,Meike W, AU - Severijnen,Lies-Anne, AU - Hukema,Renate K, AU - Rozemuller,Annemieke J M, AU - Neumann,Manuela, AU - van Swieten,John C, AU - Seelaar,Harro, PY - 2019/6/1/pubmed PY - 2020/6/17/medline PY - 2019/6/1/entrez KW - Neuronal intranuclear inclusion disease KW - dementia KW - intranuclear inclusions KW - optineurin KW - p62 SP - 665 EP - 670 JF - Journal of neuropathology and experimental neurology JO - J Neuropathol Exp Neurol VL - 78 IS - 7 N2 - Neuronal intranuclear inclusion disease (NIID) is a rare heterogeneous progressive neurodegenerative disease characterized by the presence of eosinophilic hyaline intranuclear inclusions in neuronal and glial cells of the CNS, peripheral cells of the autonomic nervous system, visceral organs and skin. The clinical presentation is broadly heterogeneous and includes limb weakness, dementia, seizures, ataxia, and parkinsonism. High-intensity signal in the corticomedullary junction on brain MRI is a characteristic finding in NIID. We describe a 65-year-old patient presenting with mild cognitive impairment, evolving in dementia with behavioral disturbances and parkinsonism. Brain MRI showed mild global cortical atrophy, more pronounced in the cingulate and temporal cortex and mild leukoaraiosis, but no high-intensity signal in corticomedullary junction on diffusion weighted imaging. Neuropathological examination showed p62- and optineurin-positive neuronal intranuclear inclusions in the hippocampus and in some subcortical structures. Glial cells did not present any intranuclear inclusions, and no spongiotic changes proximal to the U-fibers or diffuse myelin pallor were disclosed in the white matter. We report on a case with pathological features of NIID showing different neuroimaging and pathological findings. We noted an absence of typical MRI abnormalities, lack of intranuclear inclusions in glial cells, and prominent involvement of hippocampal neurons, refining the clinico-pathological spectrum of the disease. SN - 1554-6578 UR - https://www.unboundmedicine.com/medline/citation/31150092/Refining_the_Spectrum_of_Neuronal_Intranuclear_Inclusion_Disease:_A_Case_Report_ L2 - https://academic.oup.com/jnen/article-lookup/doi/10.1093/jnen/nlz043 DB - PRIME DP - Unbound Medicine ER -