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Article

Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2023

Chen Bin, Jing Jing, Dong Gehong, Shi Yuzhi, Zhang Cuiping, Zhang Yumei, Wang An, Tai Hongfei, Niu Songtao, Wang Xingao, Pan Hua, Zhang Zaiqiang

Abstract excerpt

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...

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PMID: 36809423
DOI: 10.1007/s10072-023-06688-x

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