| Literature DB >> 33016348 |
Chang-He Shi1,2,3, Yu Fan1,4, Jing Yang1,2,3, Yan-Peng Yuan1,2, Si Shen1, Fen Liu1, Cheng-Yuan Mao1,2, Han Liu1,2, Shuo Zhang1, Zheng-Wei Hu1, Li-Yuan Fan1, Meng-Jie Li1, Shi-Heng Fan1,2, Xiao-Jing Liu1,2, Yu-Ming Xu1,2,3.
Abstract
NOTCH2NLC GGC repeat expansions were recently identified in neuronal intranuclear inclusion disease (NIID); however, it remains unclear whether they occur in other neurodegenerative disorders. This study aimed to investigate the role of intermediate-length NOTCH2NLC GGC repeat expansions in Parkinson disease (PD). We screened for GGC repeat expansions in a cohort of 1,011 PD patients and identified 11 patients with intermediate-length repeat expansions ranging from 41 to 52 repeats, with no repeat expansions in 1,134 controls. Skin biopsy revealed phospho-alpha-synuclein deposition, confirming the PD diagnosis in 2 patients harboring intermediate-length repeat expansions instead of NIID or essential tremor. Fibroblasts from PD patients harboring intermediate-length repeat expansions revealed NOTCH2NLC upregulation and autophagic dysfunction. Our results suggest that intermediate-length repeat expansions in NOTCH2NLC are potentially associated with PD. ANN NEUROL 2021;89:182-187.Entities:
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Year: 2020 PMID： 33016348 DOI： 10.1002/ana.25925
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422