The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review
| Autor: | Beisha Tang, Xiu-Rong Huang, Peng Jin, Ji-feng Guo |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Neurology Neuroscience (miscellaneous) Nerve Tissue Proteins Disease Bioinformatics Leukoencephalopathy Cellular and Molecular Neuroscience Parkinsonian Disorders medicine Dementia Humans Myopathy Essential tremor business.industry Parkinsonism medicine.disease Pedigree Phenotype Intercellular Signaling Peptides and Proteins medicine.symptom business Trinucleotide repeat expansion Trinucleotide Repeat Expansion |
| Zdroj: | Molecular neurobiology. 59(1) |
| ISSN: | 1559-1182 |
| Popis: | The human-specific gene NOTCH2NLC is primarily expressed in radial glial cells and plays an important role in neuronal differentiation and cortical neurogenesis. Increasing studies were conducted to verify the relationship between NOTCH2NLC gene and many neurological diseases, such as neuronal intranuclear inclusion disease, essential tremor, multiple system atrophy, Parkinson's disease, Alzheimer's disease, and even oculopharyngodistal myopathy. Thus, we support the concept, NOTCH2NLC-related GGC repeat expansion disorders (NRED), to summarize all diseases with the GGC repeat expansion in the 5'UTR of NOTCH2NLC gene, regardless of their various clinical phenotypes. Here, we discuss the reported cases to analyze the clinical features of NOTCH2NLC-related GGC repeat expansion disorders, including dementia, parkinsonism, peripheral neuropathy and myopathy, leukoencephalopathy, and essential tremor. In addition, we outline radiological and pathological manifestations of NOTCH2NLC-related GGC repeat expansion disorders, and then present possible mechanisms, such as toxic polyG protein, toxic repeat RNA, the GGC repeat size, and the size and types of trinucleotide interruption. Therefore, this review provides a systematic description of NOTCH2NLC-related GGC repeat expansion disorders and emphasizes the significance for understanding this type of repeat expansion disease. |
| Databáze: | OpenAIRE |
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