Encephalitis-like episodes with cortical edema and enhancement in patients with neuronal intranuclear inclusion disease.
NOTCH2NLC
Cortical enhancement
Dural enhancement
Neuronal intranuclear inclusion disease
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
26 Mar 2024
26 Mar 2024
Historique:
received:
23
02
2024
accepted:
21
03
2024
medline:
27
3
2024
pubmed:
27
3
2024
entrez:
27
3
2024
Statut:
aheadofprint
Résumé
Neuronal intranuclear inclusion disease (NIID) exhibited significant clinical heterogeneities. However, the clinical features, radiographic changes, and prognosis of patients with encephalitis-like NIID have yet to be systematically elucidated. Clinical data including medical history, physical examination, and laboratory examinations were collected and analyzed. Skin and sural nerve biopsies were conducted on the patient. Repeat-primed PCR (RP-PCR) and fluorescence amplicon length PCR (AL-PCR) were used to detect the expansion of CGG repeat. We also reviewed the clinical and genetic data of NIID patients with cortical enhancement. A 54-year-old woman presented with encephalitis-like NIID, characterized by severe headache and agitative psychiatric symptoms. The brain MRI showed cortical swelling in the temporo-occipital lobes and significant enhancement of the cortical surface and dura, but without hyperintensities along the corticomedullary junction on diffusion-weighted image (DWI). A biopsy of the sural nerve revealed a demyelinating pathological change. The intranuclear inclusions were detected in nerve and skin tissues using the p62 antibody and electron microscopy. RP-PCR and AL-PCR unveiled the pathogenic expansion of CGG repeats in the NOTCH2NLC gene. A review of the literature indicated that nine out of the 16 patients with cortical lesions and linear enhancement exhibited encephalitis-like NIID. This study indicated that patients with encephalitis-like NIID typically exhibited headache and excitatory psychiatric symptoms, often accompanied by cortical edema and enhancement of posterior lobes, and responded well to glucocorticoid treatment. Furthermore, some patients may not exhibit hyperintensities along the corticomedullary junction on DWI, potentially leading to misdiagnosis.
Identifiants
pubmed: 38532189
doi: 10.1007/s10072-024-07492-x
pii: 10.1007/s10072-024-07492-x
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : National Natural Science Foundation of China
ID : 82071409
Organisme : National Natural Science Foundation of China
ID : 82171846
Organisme : National Natural Science Foundation of China
ID : 82160252
Organisme : National Natural Science Foundation of China
ID : 82271439
Organisme : National Natural Science Foundation of China
ID : U20A20356
Organisme : Natural Science Foundation of Jiangxi Province
ID : 20224ACB206015
Organisme : Double Thousand Plan of Jiangxi Province
ID : jxsq2019101021
Organisme : Key Science and Technology Research Project in Jiangxi Province Department of Education
ID : GJJ210155
Informations de copyright
© 2024. Fondazione Società Italiana di Neurologia.
Références
Lu X, Hong D (2021) Neuronal intranuclear inclusion disease: recognition and update. J Neural Transm (Vienna) 128(3):295–303
doi: 10.1007/s00702-021-02313-3
pubmed: 33599827
Sone J, Mori K, Inagaki T et al (2016) Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 139(Pt 12):3170–3186
doi: 10.1093/brain/aww249
pubmed: 27797808
pmcid: 5382941
Takahashi-Fujigasaki J (2003) Neuronal intranuclear hyaline inclusion disease. Neuropathology 23(4):351–359
doi: 10.1046/j.1440-1789.2003.00524.x
pubmed: 14719553
Zhou Y, Huang P, Huang Z et al (2022) Urine cytological study in patients with clinicopathologically confirmed neuronal intranuclear inclusion disease. Front Aging Neurosci 14:977604
doi: 10.3389/fnagi.2022.977604
pubmed: 36172483
pmcid: 9510843
Deng J, Gu M, Miao Y et al (2019) Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet 56(11):758–764
doi: 10.1136/jmedgenet-2019-106268
pubmed: 31413119
Liufu T, Zheng Y, Yu J et al (2022) The polyG diseases: a new disease entity. Acta Neuropathol Commun 10(1):79
doi: 10.1186/s40478-022-01383-y
pubmed: 35642014
pmcid: 9153130
Tian Y, Wang JL, Huang W et al (2019) Expansion of human-specific GGC repeat in neuronal intranuclear inclusion disease-related disorders. Am J Hum Genet 105(1):166–176
doi: 10.1016/j.ajhg.2019.05.013
pubmed: 31178126
pmcid: 6612530
Han X, Han M, Liu N et al (2019) Adult-onset neuronal intranuclear inclusion disease presenting with typical MRI changes. Brain Behav 9(12):e01477
doi: 10.1002/brb3.1477
pubmed: 31749292
pmcid: 6908888
Wang ZY, Guo JJ, Wang M, Wang ZX, Hong DJ, Yu XF (2020) Adult-onset neuronal intranuclear inclusion disease mimicking Parkinson’s disease in a Chinese patient: a case report and literature reviews. Neuro Endocrinol Lett 41(4):155–161
pubmed: 33307649
Wang Y, Wang B, Wang L et al (2020) Diagnostic indicators for adult-onset neuronal intranuclear inclusion disease. Clin Neuropathol 39(1):7–18
doi: 10.5414/NP301203
pubmed: 31661069
Xie F, Hu X, Liu P, Zhang D (2022) A case report of neuronal intranuclear inclusion disease presenting with recurrent migraine-like attacks and cerebral edema: a mimicker of MELAS. Front Neurol 13:837844
doi: 10.3389/fneur.2022.837844
pubmed: 35299615
pmcid: 8920963
Zhao D, Zhu S, Xu Q, Deng J, Wang Z, Liu X (2021) Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation. BMC Neurol 21(1):334
doi: 10.1186/s12883-021-02367-6
pubmed: 34479498
pmcid: 8414699
Tian Y, Zhou L, Gao J et al (2022) Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease. J Neurol Neurosurg Psychiatry 93(12):1289–1298
doi: 10.1136/jnnp-2022-329772
pubmed: 36150844
Sugiyama A, Sato N, Kimura Y et al (2017) MR imaging features of the cerebellum in adult-onset neuronal intranuclear inclusion disease: 8 cases. AJNR Am J Neuroradiol 38(11):2100–2104
doi: 10.3174/ajnr.A5336
pubmed: 28818825
pmcid: 7963582
Chen L, Wu L, Li S et al (2018) A long time radiological follow-up of neuronal intranuclear inclusion disease: two case reports. Medicine (Baltimore) 97(49):e13544
doi: 10.1097/MD.0000000000013544
pubmed: 30544465
Fujita K, Osaki Y, Miyamoto R et al (2017) Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease. Neurol Clin Pract 7(6):e39–e42
doi: 10.1212/CPJ.0000000000000389
pubmed: 29431160
pmcid: 5800705
Liu YH, Chou YT, Chang FP et al (2022) Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy. Brain 145(9):3010–3021
doi: 10.1093/brain/awac135
pubmed: 35411397
Ishihara T, Okamoto T, Saida K et al (2020) Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy. Neurol Genet 6(6):e531
doi: 10.1212/NXG.0000000000000531
pubmed: 33324757
pmcid: 7713717
Tai H, Wang A, Zhang Y et al (2023) Clinical features and classification of neuronal intranuclear inclusion disease. Neurol Genet 9(2):e200057
doi: 10.1212/NXG.0000000000200057
pubmed: 37090934
pmcid: 10117695
Liang H, Wang B, Li Q et al (2020) Clinical and pathological features in adult-onset NIID patients with cortical enhancement. J Neurol 267(11):3187–3198
doi: 10.1007/s00415-020-09945-7
pubmed: 32535679
Orihara A, Miyakoshi N, Sunami Y et al (2023) Acute reversible encephalopathy with neuronal intranuclear inclusion disease diagnosed by a brain biopsy: inferring the mechanism of encephalopathy from radiological and histological findings. Intern Med 62(12):1821–1825
doi: 10.2169/internalmedicine.0156-22
pubmed: 36288982
Mori K, Yagishita A, Funata N, Yamada R, Takaki Y, Miura Y (2022) Imaging findings and pathological correlations of subacute encephalopathy with neuronal intranuclear inclusion disease–case report. Radiol Case Rep 17(12):4481–4486
doi: 10.1016/j.radcr.2022.08.084
pubmed: 36189161
pmcid: 9519487
Wu J, Li Q, Yi J (2022) Teaching neuroimage: occipital cortical enhancement during encephalopathy-like episode in neuronal intranuclear inclusion disease. Neurology 99(21):964–965
doi: 10.1212/WNL.0000000000201306
pubmed: 36127145
Hong D, Wang H, Zhu M et al (2023) Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy. Eur J Neurol 30(2):527–537
doi: 10.1111/ene.15606
pubmed: 36263606
Huang Y, Jin G, Zhan QL, Tian Y, Shen L (2021) Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report. BMC Neurol 21(1):142
doi: 10.1186/s12883-021-02164-1
pubmed: 33789591
pmcid: 8011180
Iizuka T, Sakai F, Suzuki N et al (2002) Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. Neurology 59(6):816–824
doi: 10.1212/WNL.59.6.816
pubmed: 12297560
Yu J, Liufu T, Zheng Y et al (2022) CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model. Proc Natl Acad Sci U S A 119(41):e2208649119
doi: 10.1073/pnas.2208649119
pubmed: 36191230
pmcid: 9565157
Dreier JP, Jurkat-Rott K, Petzold GC et al (2005) Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II. Neurology 64(12):2145–2147
doi: 10.1212/01.WNL.0000176298.63840.99
pubmed: 15985592
Akaishi T, Narikawa K, Suzuki Y et al (2015) Importance of the quotient of albumin, quotient of immunoglobulin G and Reibergram in inflammatory neurological disorders with disease-specific patterns of blood–brain barrier permeability. Neurol Clin Neurosci 3(3):94–100
Boivin M, Deng J, Pfister V et al (2021) Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases. Neuron 109(11):1825-1835.e1825
doi: 10.1016/j.neuron.2021.03.038
pubmed: 33887199
pmcid: 8186563
Yoshii D, Ayaki T, Wada T et al (2022) An autopsy case of adult-onset neuronal intranuclear inclusion disease with perivascular preservation in cerebral white matter. Neuropathology 42(1):66–73
doi: 10.1111/neup.12778
pubmed: 34954850
Liu Q, Zhang K, Kang Y et al (2022) Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease. Sci Adv. 8(47):eadd6391
doi: 10.1126/sciadv.add6391
pubmed: 36417528
pmcid: 9683706
Mulligan SJ, MacVicar BA (2004) Calcium transients in astrocyte endfeet cause cerebrovascular constrictions. Nature 431(7005):195–199
doi: 10.1038/nature02827
pubmed: 15356633