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dc.contributor.authorChen, Zhiyongen_US
dc.contributor.authorXu, Zheyuen_US
dc.contributor.authorCheng, Qianhuien_US
dc.contributor.authorTan, Jayne Yien_US
dc.contributor.authorOng, Helen L.en_US
dc.contributor.authorZhao, Yien_US
dc.contributor.authorLim, Weng Khongen_US
dc.contributor.authorTeo, Jing Xianen_US
dc.contributor.authorFoo, Jia Neeen_US
dc.contributor.authorLee, Hwei Yeeen_US
dc.contributor.authorTan, Jeanne M. M.en_US
dc.contributor.authorHang, Litingen_US
dc.contributor.authorYu, Wai-Yungen_US
dc.contributor.authorTing, Simon K. S.en_US
dc.contributor.authorTan, Eng-Kingen_US
dc.contributor.authorLim, Tchoyoson C. C.en_US
dc.contributor.authorNg, Adeline S. L.en_US
dc.identifier.citationChen, Z., Xu, Z., Cheng, Q., Tan, J. Y., Ong, H. L., Zhao, Y., Lim, W. K., Teo, J. X., Foo, J. N., Lee, H. Y., Tan, J. M. M., Hang, L., Yu, W., Ting, S. K. S., Tan, E., Lim, T. C. C. & Ng, A. S. L. (2020). Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort. Clinical Genetics, 98(3), 274-281.
dc.description.abstractNeuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder associated with GGC repeats of >60 to 500 copies in the 5'-untranslated region of NOTCH2NLC. The clinical and genetic characterization of NIID outside of East Asia remains unknown. We identified twelve patients who underwent genetic testing using long-read sequencing or repeat primed polymerase chain reaction. All were positive for a GGC repeat expansion; the median repeat length was 107 (range 92-138). Ten were Chinese and two of Malay ethnicity. Age at onset ranged from 50 to 69 years. Eight (66.7%) patients had dementia, while four (33.3%) patients were oligosymptomatic, without typical NIID symptoms of dementia, Parkinsonism, or muscle weakness. GGA interruptions within the GGC expansion were present in four patients; the number of GGA interruptions was highest (6.71%) in the patient with the earliest age at onset (50 years). Median plasma neurofilament light level was 47.3 pg/mL in seven patients (range 26-380 pg/mL). The highest level (380 pg/mL) was found in one patient who experienced an encephalitic episode. Overall, we describe a cohort of genetically confirmed NIID patients from Southeast Asia and provide further information that the presence of GGA interruptions within GGC repeat expansions may serve as a potential genetic modifier in NIID.en_US
dc.description.sponsorshipNational Medical Research Council (NMRC)en_US
dc.relationNNI-HREF NRH16/001en_US
dc.relation.ispartofClinical Geneticsen_US
dc.rights© 2020 John Wiley & Sons A/S. All rights reserved.en_US
dc.titlePhenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohorten_US
dc.typeJournal Articleen
dc.contributor.schoolLee Kong Chian School of Medicine (LKCMedicine)en_US
dc.subject.keywordsDiffusion-weighted Imagingen_US
dc.subject.keywordsGGC Repeat Expansionen_US
dc.description.acknowledgementThis study was funded by Singapore's National Medical Research Council (ASLN by the Transition Award (MOH-TA18may-0003); ZC by the NMRC Centre Grant Seed Funding Programme-Pilot Grant (IRNMR17CPG02); CTL by the NNI Research Endowment Fund (NNI-HREF NRH16/001).en_US
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