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Title: Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC
Authors: Chen, B
Jing, J
Dong, G
Shi, Y 
Zhang, C
Zhang, Y
Wang, A
Tai, H
Niu, S
Wang, X
Pan, H
Zhang, Z
Keywords: Autonomic dysfunction
Biallelic GGC repeat expansions
Deep medullary veins
Neuronal intranuclear inclusion disease
Autonomic Nervous System Diseases
East Asian People
Intranuclear Inclusion Bodies
Neurodegenerative Diseases
Trinucleotide Repeat Expansion
Nerve Tissue Proteins
Intercellular Signaling Peptides and Proteins
Issue Date: 1-May-2023
Publisher: Springer Science and Business Media LLC
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.
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.
Source Title: Neurological Sciences
ISSN: 1590-1874
DOI: 10.1007/s10072-023-06688-x
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