ArticleMovement disorders : official journal of the Movement Disorder Society2021
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Article in Movement disorders : official journal of the Movement Disorder Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- Modeling neuronal intranuclear inclusion disease: A review of animal and human-derived cellular models and mechanistic insights.Zoological research · 2025Review
- NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics.Annals of clinical and translational neurology · 2025Article
- Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.Brain communications · 2025Article
- Prevalence and Characterization ofNeurology. Genetics · 2024Article
- Genetic Movement Disorders Commonly Seen in Asians.Movement disorders clinical practice · 2023Review
- Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.Journal of human genetics · 2023Article
- Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor.Journal of molecular neuroscience : MN · 2023Article
- NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients.Scientific reports · 2023Article
- Advances in sequencing technologies for amyotrophic lateral sclerosis research.Molecular neurodegeneration · 2023Review
- CGG repeat expansion inProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Pallidal degenerations and related disorders: an update.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- The polyG diseases: a new disease entity.Acta neuropathologica communications · 2022Review
- Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.Science advances · 2022Article
- Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.Nature reviews. Neurology · 2022Review
- Multi-typeFrontiers in neurology · 2022Article
- Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.Frontiers in neurology · 2022Review
- NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- Genomic Markers for Essential Tremor.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Screening GGC repeat expansion in theAlzheimer's & dementia (Amsterdam, Netherlands)Article
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 5 countries.
Funding
Abstract
backgroundThe objective of this study was to determine the prevalence of the GGC-repeat expansion in NOTCH2NLC in whites presenting with movement disorders.
methodsWe searched for the GGC-repeat expansion in NOTCH2NLC using repeat-primed polymerase chain reaction in 203 patients with essential tremor, 825 patients with PD, 194 patients with spinocerebellar ataxia, 207 patients with "possible" or "probable" MSA, and 336 patients with pathologically confirmed MSA. We also screened 30,008 patients enrolled in the 100,000 Genomes Project for the same mutation using ExpansionHunter, followed by repeat-primed polymerase chain reaction. All possible expansions were confirmed by Southern blotting and/or long-read sequencing.
resultsWe identified 1 patient who carried the NOTCH2NLC mutation in the essential tremor cohort, and 1 patient presenting with recurrent encephalopathy and postural tremor/parkinsonism in the 100,000 Genomes Project.
conclusionsGGC-repeat expansion in NOTCH2NLC is rare in whites presenting with movement disorders. In addition, existing whole-genome sequencing data are useful in case ascertainment. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.