Hostname: page-component-669899f699-chc8l Total loading time: 0 Render date: 2025-04-24T19:19:16.431Z Has data issue: false hasContentIssue false
  • English
  • Français

Recurrent Cortical Encephalitis-Like MRI Lesion in European Descent Patient with Neuronal Intranuclear Inclusion Disease

Published online by Cambridge University Press:  04 March 2025

Suradech Suthiphosuwan Open the ORCID record for Suradech Suthiphosuwan [Opens in a new window] ,
Timothy Reynold Lim ,
David G. Munoz Open the ORCID record for David G. Munoz [Opens in a new window] ,
David Fam ,
Julian Spears ,
Aditya Bharatha ,
Elaine Guo Yan Chew ,
Jia Nee Foo ,
Weng Khong Lim  and
Tchoyoson Lim
...Show all authors
Suradech Suthiphosuwan*
Affiliation:
Division of Neuroradiology, Department of Medical Imaging, Unity Health Toronto-St. Michael’s Hospital, University of Toronto, Toronto, Ontario, Canada
Timothy Reynold Lim
Affiliation:
Division of Neuroradiology, Department of Medical Imaging, Unity Health Toronto-St. Michael’s Hospital, University of Toronto, Toronto, Ontario, Canada
David G. Munoz
Affiliation:
Department of Laboratory Medicine, Unity Health Toronto-St. Michael’s Hospital,University of Toronto, Toronto, Ontario, Canada
David Fam
Affiliation:
Department of Medicine, Unity Health Toronto-St. Joseph’s Hospital, University of Toronto, Toronto, Ontario, Canada
Julian Spears
Affiliation:
Division of Neurosurgery, Department of Surgery, Unity Health Toronto-St. Michael’s Hospital, University of Toronto, Toronto, Ontario, Canada
Aditya Bharatha
Affiliation:
Division of Neuroradiology, Department of Medical Imaging, Unity Health Toronto-St. Michael’s Hospital, University of Toronto, Toronto, Ontario, Canada
Elaine Guo Yan Chew
Affiliation:
Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore
Jia Nee Foo
Affiliation:
Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore
Weng Khong Lim
Affiliation:
Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore Singhealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore
Tchoyoson Lim
Affiliation:
Department of Radiology, National Neuroscience Institute, Singapore, Singapore
Yi Jayne Tan
Affiliation:
Department of Neurology, National Neuroscience Institute, Singapore, Singapore
Adeline Su Lyn Ng
Affiliation:
Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore Department of Neurology, National Neuroscience Institute, Singapore, Singapore
Agnes Supala-Berger
Affiliation:
Department of Medicine, Unity Health Toronto-St. Joseph’s Hospital, University of Toronto, Toronto, Ontario, Canada
*
Corresponding author: Suradech Suthiphosuwan; Email: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

An abstract is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'

Keywords

diagnostic neuroradiologyneuronal intranuclear inclusion diseaseneuropathologyneurodegenerative diseasesseizures
Type
Letter to the Editor: New Observation
Information
Canadian Journal of Neurological Sciences , First View , pp. 1 - 4
Copyright
© The Author(s), 2025. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

References

Sone, J, Mori, K, Inagaki, T, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain. 2016;139(12):3170–3186. doi: 10.1093/brain/aww249.Google Scholar
Sone, J, Mitsuhashi, S, Fujita, A, et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019;51(8):1215–1221. doi: 10.1038/s41588-019-0459-y.Google Scholar
Suthiphosuwan, S, Sasikumar, S, Munoz, DG, Chan, DK, Montanera, WJ, Bharatha, A. MRI diagnosis of neuronal intranuclear inclusion disease leukoencephalopathy. Neur Clin Pract. 2019;9(6):497–499. doi: 10.1212/CPJ.0000000000000664.Google Scholar
Boivin, M, Deng, J, Pfister, V, et al. Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases. Neuron. 2021;109(11):1825–1835.e5. doi: 10.1016/j.neuron.2021.03.038.Google Scholar
Podar, IV, Gutmann, DAP, Harmuth, F, et al. First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual. Euro J of Neurology. 2023;30(9):2854–2858. doi: 10.1111/ene.15905.Google Scholar
De Santis, T, Politi, LS, Valente, EM, Albanese, A. MRI Abnormalities identify neuronal intranuclear inclusion disease. Ann Neurol. 2024;95(5):1009–1010. doi: 10.1002/ana.26853.Google Scholar
Mori, K, Yagishita, A, Funata, N, Yamada, R, Takaki, Y, Miura, Y. Imaging findings and pathological correlations of subacute encephalopathy with neuronal intranuclear inclusion disease-case report. Radiology Case Reports. 2022;17(12):4481–4486. doi: 10.1016/j.radcr.2022.08.084.Google Scholar
Zhou, ZD, Jankovic, J, Ashizawa, T, Tan, EK. Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions. Nat Rev Neurol. 2022;18(3):145–157. doi: 10.1038/s41582-021-00612-7.Google Scholar
Supplementary material: File

Suthiphosuwan et al. supplementary material

Suthiphosuwan et al. supplementary material
Download Suthiphosuwan et al. supplementary material(File)
File 187.8 KB