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The present study aimed to investigate the prevalence, clinical spectrum and brain MRI characteristics of NIID in adult-onset nonvascular leukoencephalopathies and assess the diagnostic performance of neuroimaging features.<\/jats:p>\n               <jats:p>One hundred and sixty-one unrelated Taiwanese patients with genetically undetermined nonvascular leukoencephalopathies were screened for the NOTCH2NLC GGC repeat expansions using fragment analysis, repeat-primed PCR, Southern blot analysis and\/or nanopore sequencing with Cas9-mediated enrichment. Among them, 32 (19.9%) patients had an expanded NOTCH2NLC allele and were diagnosed with NIID. We enrolled another two affected family members from one patient for further analysis. The size of the expanded NOTCH2NLC GGC repeats in the 34 patients ranged from 73 to 323 repeats. Skin biopsies from five patients all showed eosinophilic, p62-positive intranuclear inclusions in the sweat gland cells and dermal adipocytes.<\/jats:p>\n               <jats:p>Among the 34 NIID patients presenting with nonvascular leukoencephalopathies, the median age at symptom onset was 61 years (range, 41\u201378 years) and the initial presentations included cognitive decline (44.1%; 15\/34), acute encephalitis-like episodes (32.4%; 11\/34), limb weakness (11.8%; 4\/34) and parkinsonism (11.8%; 4\/34). Cognitive decline (64.7%; 22\/34) and acute encephalitis-like episodes (55.9%; 19\/34) were also the most common overall manifestations. Two-thirds of the patients had either bladder dysfunction or visual disturbance. Comparing the brain MRI features between the NIID patients and individuals with other undetermined leukoencephalopathies, corticomedullary junction curvilinear lesions on diffusion weighted images were the best biomarkers for diagnosing NIID with high specificity (98.4%) and sensitivity (88.2%). However, this diffusion weighted imaging abnormality was absent in 11.8% of the NIID patients. When only fluid-attenuated inversion recovery images were available, the presence of white matter hyperintensity lesions either in the paravermis or middle cerebellar peduncles also favoured the diagnosis of NIID with a specificity of 85.3% and sensitivity of 76.5%. Among the MRI scans of 10 patients, performed within 5 days of the onset of acute encephalitis-like episodes, five showed cortical hyperintense lesions on diffusion weighted images and two revealed focal brain oedema.<\/jats:p>\n               <jats:p>In conclusion, NIID accounts for 19.9% (32\/161) of patients with adult-onset genetically undiagnosed nonvascular leukoencephalopathies in Taiwan. Half of the NIID patients developed encephalitis-like episodes with restricted diffusion in the cortical regions on diffusion weighted images at the acute stage. Corticomedullary junction hyperintense lesions, white matter hyperintensities in the paravermis or middle cerebellar peduncles, bladder dysfunction and visual disturbance are useful hints to diagnosing NIID.<\/jats:p>","DOI":"10.1093\/brain\/awac135","type":"journal-article","created":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T06:47:42Z","timestamp":1649746062000},"page":"3010-3021","source":"Crossref","is-referenced-by-count":73,"title":["Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5269-605X","authenticated-orcid":false,"given":"Yi Hong","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Neurology, Taipei Veterans General Hospital , Taipei 11217 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying Tsen","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Neurology, Taipei Veterans General Hospital , Taipei 11217 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fu Pang","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital , Taipei 11217 , Taiwan"},{"name":"Institute of Clinical Medicine, National Yang Ming Chiao Tung University , Taipei 11221 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei Ju","family":"Lee","sequence":"additional","affiliation":[{"name":"Neurological Institute, Taichung Veterans General Hospital , Taichung 40705 , Taiwan"},{"name":"Faculty of Medicine, School of Medicine, National Yang Ming Chiao Tung University , Taipei 11221 , Taiwan"},{"name":"College of Medicine, National Chung Hsing University , Taichung 40227 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuh Cherng","family":"Guo","sequence":"additional","affiliation":[{"name":"Neuroscience and Brain Disease Center, College of Medicine, China Medical University , Taichung 404333 , Taiwan"},{"name":"Department of Neurology, China Medical University Hospital , Taichung 404332 , Taiwan"},{"name":"School of Medicine, College of Medicine, China Medical University , Taichung 404333 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng Ta","family":"Chou","sequence":"additional","affiliation":[{"name":"Neurological Institute, Taichung Veterans General Hospital , Taichung 40705 , Taiwan"},{"name":"School of Medicine, College of Medicine, China Medical University , Taichung 404333 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui Chun","family":"Huang","sequence":"additional","affiliation":[{"name":"Neuroscience and Brain Disease Center, College of Medicine, China Medical University , Taichung 404333 , Taiwan"},{"name":"Department of Neurology, China Medical University Hospital , Taichung 404332 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[{"name":"Rong Hsing Research Center for Translational Medicine, National Chung Hsing University , Taichung 40227 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien Chen","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Neurology, Taipei Veterans General Hospital , Taipei 11217 , Taiwan"},{"name":"Faculty of Medicine, School of Medicine, National Yang Ming Chiao Tung University , Taipei 11221 , Taiwan"},{"name":"Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama 236-0004 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiang Yu","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Taipei Veterans General Hospital , Taipei 11217 , Taiwan"},{"name":"Faculty of Medicine, School of Medicine, National Yang Ming Chiao Tung University , Taipei 11221 , Taiwan"},{"name":"Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama 236-0004 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai Wei","family":"Yu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, School of Medicine, National Yang Ming Chiao Tung University , Taipei 11221 , Taiwan"},{"name":"Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama 236-0004 , Japan"},{"name":"Brain Research Center, National Yang Ming Chiao Tung University , Taipei 11221 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiu Mei","family":"Wu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, School of Medicine, National Yang Ming Chiao Tung University , Taipei 11221 , Taiwan"},{"name":"Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama 236-0004 , Japan"},{"name":"Brain Research Center, National Yang Ming Chiao Tung University , Taipei 11221 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei Chien","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Radiology, Taipei Veterans General Hospital , Taipei 11217 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9846-6500","authenticated-orcid":false,"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Rong Hsing Research Center for Translational Medicine, National Chung Hsing University , Taichung 40227 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology, Taipei Veterans General Hospital , Taipei 11217 , Taiwan"},{"name":"Faculty of Medicine, School of 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