Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/152268
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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.date.accessioned2021-09-01T06:08:45Z-
dc.date.available2021-09-01T06:08:45Z-
dc.date.issued2020-
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. https://dx.doi.org/10.1111/cge.13802en_US
dc.identifier.issn0009-9163en_US
dc.identifier.urihttps://hdl.handle.net/10356/152268-
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.language.isoenen_US
dc.relationMOH-TA18may-0003en_US
dc.relationIRNMR17CPG02en_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.subjectScience::Medicineen_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.identifier.doi10.1111/cge.13802-
dc.identifier.pmid32602554-
dc.identifier.scopus2-s2.0-85088444885-
dc.identifier.issue3en_US
dc.identifier.volume98en_US
dc.identifier.spage274en_US
dc.identifier.epage281en_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
item.fulltextNo Fulltext-
item.grantfulltextnone-
Appears in Collections:LKCMedicine Journal Articles

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