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Neurological Sciences
Published in: Neurological Sciences 10/2021

01-10-2021 | Amyotrophic Lateral Sclerosis | Review Article

NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders

Authors: Lanxiao Cao, Yaping Yan, Guohua Zhao

Published in: Neurological Sciences | Issue 10/2021

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Abstract

The NOTCH2NLC gene 5′ untranslated region (UTR) GGC repeat expansion mutations were identified as a genetic contributor of neuronal intranuclear inclusion disease (NIID) in 2019. Since then, the number of reported cases with NOTCH2NLC GGC repeat expansion in Asian and European populations has increased rapidly, indicating that the expanded mutation not only leads to the onset or progression of the NIID, but also may play an important role in multiple progressive neurological disorders, including Parkinson’s disease, essential tremor, multiple system atrophy, Alzheimer’s disease, frontotemporal dementia, amyotrophic lateral sclerosis, leukoencephalopathy, and oculopharyngodistal myopathy type 3. Nevertheless, the underlying pathogenic mechanism of the NOTCH2NLC 5′ UTR region GGC repeat expansion in these disorders remains largely unknown. This review aims to present recent breakthroughs on this mutation and improve our knowledge of a newly defined spectrum of disease: NOTCH2NLC-related repeat expansion disorder.
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Metadata
Title
NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders
Authors
Lanxiao Cao
Yaping Yan
Guohua Zhao
Publication date
01-10-2021
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 10/2021
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-021-05498-3

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