Please use this identifier to cite or link to this item:
https://doi.org/10.1007/s10072-023-06688-x
DC Field | Value | |
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dc.title | Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC | |
dc.contributor.author | Chen, B | |
dc.contributor.author | Jing, J | |
dc.contributor.author | Dong, G | |
dc.contributor.author | Shi, Y | |
dc.contributor.author | Zhang, C | |
dc.contributor.author | Zhang, Y | |
dc.contributor.author | Wang, A | |
dc.contributor.author | Tai, H | |
dc.contributor.author | Niu, S | |
dc.contributor.author | Wang, X | |
dc.contributor.author | Pan, H | |
dc.contributor.author | Zhang, Z | |
dc.date.accessioned | 2023-07-19T09:11:37Z | |
dc.date.available | 2023-07-19T09:11:37Z | |
dc.date.issued | 2023-05-01 | |
dc.identifier.citation | Chen, B, Jing, J, Dong, G, Shi, Y, Zhang, C, Zhang, Y, Wang, A, Tai, H, Niu, S, Wang, X, Pan, H, Zhang, Z (2023-05-01). Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC. Neurological Sciences 44 (5) : 1769-1772. ScholarBank@NUS Repository. https://doi.org/10.1007/s10072-023-06688-x | |
dc.identifier.issn | 1590-1874 | |
dc.identifier.issn | 1590-3478 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/243222 | |
dc.description.abstract | The GGC repeat expansions in the NOTCH2NLC gene are associated with multiple neurodegenerative disorders. Herein, we report the clinical phenotype in a family with biallelic GGC expansions in NOTCH2NLC. Autonomic dysfunction was a prominent clinical manifestation in three genetically confirmed patients without dementia, parkinsonism, and cerebellar ataxia for > 12 years. A 7-T brain magnetic resonance imaging in two patients revealed a change in the small cerebral veins. The biallelic GGC repeat expansions may not modify the disease progression in neuronal intranuclear inclusion disease. Autonomic dysfunction-dominant may expand the clinical phenotype of NOTCH2NLC. | |
dc.publisher | Springer Science and Business Media LLC | |
dc.source | Elements | |
dc.subject | Autonomic dysfunction | |
dc.subject | Biallelic GGC repeat expansions | |
dc.subject | Deep medullary veins | |
dc.subject | NOTCH2NLC | |
dc.subject | Neuronal intranuclear inclusion disease | |
dc.subject | Humans | |
dc.subject | Autonomic Nervous System Diseases | |
dc.subject | Brain | |
dc.subject | East Asian People | |
dc.subject | Intranuclear Inclusion Bodies | |
dc.subject | Neurodegenerative Diseases | |
dc.subject | Phenotype | |
dc.subject | Trinucleotide Repeat Expansion | |
dc.subject | Nerve Tissue Proteins | |
dc.subject | Intercellular Signaling Peptides and Proteins | |
dc.type | Article | |
dc.date.updated | 2023-07-19T07:50:50Z | |
dc.contributor.department | CHINESE STUDIES | |
dc.description.doi | 10.1007/s10072-023-06688-x | |
dc.description.sourcetitle | Neurological Sciences | |
dc.description.volume | 44 | |
dc.description.issue | 5 | |
dc.description.page | 1769-1772 | |
dc.published.state | Published | |
Appears in Collections: | Elements Staff Publications |
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汉英对比认知研究.pdf | 7.23 MB | Adobe PDF | CLOSED | Published |
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