Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals
Repeat expansions in NOTCH2NLC and FMR1 share clinical features, including parkinsonism and ataxia, resembling atypical parkinsonian syndromes. We analyzed these expansions in atypical parkinsonism patients without corticomedullary junction hyperintensity on diffusion-weighted imaging, comparing the...
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| Published in | Movement disorders |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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15.07.2025
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| ISSN | 0885-3185 1531-8257 |
| DOI | 10.1002/mds.30290 |
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| Abstract | Repeat expansions in NOTCH2NLC and FMR1 share clinical features, including parkinsonism and ataxia, resembling atypical parkinsonian syndromes. We analyzed these expansions in atypical parkinsonism patients without corticomedullary junction hyperintensity on diffusion-weighted imaging, comparing them to asymptomatic elderly individuals.
We analyzed two cohorts: (1) 252 patients with atypical parkinsonism, including 165 with multiple system atrophy (MSA), 58 with progressive supranuclear palsy (PSP), and 29 with corticobasal syndrome, analyzed by repeat-primed polymerase chain reaction; and (2) 341 asymptomatic individuals over 60 from Taiwan Biobank, analyzed via whole-genome sequencing.
We identified NOTCH2NLC expansions (≥60 repeats) in six patients (2.38%) with atypical parkinsonism (MSA: 4, PSP: 2; range: 102-124) and two asymptomatic individuals (0.58%, range: 63-225). Although more frequent in atypical parkinsonism (P = 0.07), the difference was not significant. FMR1 expansions were rare in both groups.
NOTCH2NLC expansions may mimic PSP and MSA in early stages, warranting careful genetic evaluation. © 2025 International Parkinson and Movement Disorder Society. |
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| AbstractList | Repeat expansions in NOTCH2NLC and FMR1 share clinical features, including parkinsonism and ataxia, resembling atypical parkinsonian syndromes. We analyzed these expansions in atypical parkinsonism patients without corticomedullary junction hyperintensity on diffusion-weighted imaging, comparing them to asymptomatic elderly individuals.
We analyzed two cohorts: (1) 252 patients with atypical parkinsonism, including 165 with multiple system atrophy (MSA), 58 with progressive supranuclear palsy (PSP), and 29 with corticobasal syndrome, analyzed by repeat-primed polymerase chain reaction; and (2) 341 asymptomatic individuals over 60 from Taiwan Biobank, analyzed via whole-genome sequencing.
We identified NOTCH2NLC expansions (≥60 repeats) in six patients (2.38%) with atypical parkinsonism (MSA: 4, PSP: 2; range: 102-124) and two asymptomatic individuals (0.58%, range: 63-225). Although more frequent in atypical parkinsonism (P = 0.07), the difference was not significant. FMR1 expansions were rare in both groups.
NOTCH2NLC expansions may mimic PSP and MSA in early stages, warranting careful genetic evaluation. © 2025 International Parkinson and Movement Disorder Society. |
| Author | Fan, Sung‐Pin Chang, Koping Tsai, Hsin‐Hsi Lin, Chin‐Hsien Wu, Yih‐Ru Hsu, Jacob Shujui Feng, Yen‐Chen Anne Lu, Chin‐Song Chen, Pin‐Shiuan Chen, Chun‐Yu Hsiao, Ing‐Tsung Chang, Hsiu‐Chen Lan, Min‐Yu Lee, Tsung‐Lin Lee, Ming‐Jen Li, Cheng‐Hsuan Liu, Yi‐Ling Chiang, Han‐Lin Chiang, Pu‐Tien Chang, Yang‐Yee Tai, Chun‐Hwei Ke, Yi‐Syuan |
| Author_xml | – sequence: 1 givenname: Pin‐Shiuan surname: Chen fullname: Chen, Pin‐Shiuan organization: Department of Neurology National Taiwan University Hospital Taipei Taiwan, Graduate Institute of Clinical Medicine, College of Medicine National Taiwan University Taipei Taiwan – sequence: 2 givenname: Yi‐Ling surname: Liu fullname: Liu, Yi‐Ling organization: Graduate Institute of Medical Genomics and Proteomics, College of Medicine National Taiwan University Taipei Taiwan, Institute of Molecular Medicine National Taiwan University College of Medicine Taipei Taiwan – sequence: 3 givenname: Pu‐Tien surname: Chiang fullname: Chiang, Pu‐Tien organization: Department of Neurology National Taiwan University Hospital Taipei Taiwan, Department of Neurology National Taiwan University Hospital Bei‐Hu Branch Taipei Taiwan – sequence: 4 givenname: Hsin‐Hsi surname: Tsai fullname: Tsai, Hsin‐Hsi organization: Department of Neurology National Taiwan University Hospital Taipei Taiwan – sequence: 5 givenname: Ming‐Jen surname: Lee fullname: Lee, Ming‐Jen organization: Department of Neurology National Taiwan University Hospital Taipei Taiwan – sequence: 6 givenname: Yang‐Yee surname: Chang fullname: Chang, Yang‐Yee organization: Department of Neurology Kaohsiung Chang Gung Memorial Hospital Kaohsiung Taiwan, Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital Kaohsiung Taiwan – sequence: 7 givenname: Min‐Yu surname: Lan fullname: Lan, Min‐Yu organization: Department of Neurology Kaohsiung Chang Gung Memorial Hospital Kaohsiung Taiwan, Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital Kaohsiung Taiwan – sequence: 8 givenname: Yih‐Ru orcidid: 0000-0003-1191-2542 surname: Wu fullname: Wu, Yih‐Ru organization: Department of Neurology Linkou Chang Gung Memorial Hospital Taoyuan Taiwan, College of Medicine Chang Gung University Taoyuan Taiwan – sequence: 9 givenname: Ing‐Tsung surname: Hsiao fullname: Hsiao, Ing‐Tsung organization: Nuclear Medicine and Center for Advanced Molecular Imaging and Translation, Linkou Chang Gung Memorial Hospital Taoyuan Taiwan, Department of Medical Imaging and Radiological Sciences Chang Gung University Taoyuan Taiwan – sequence: 10 givenname: Cheng‐Hsuan surname: Li fullname: Li, Cheng‐Hsuan organization: Department of Neurology National Taiwan University Hospital Taipei Taiwan, Graduate Institute of Clinical Medicine, College of Medicine National Taiwan University Taipei Taiwan, Department of Neurology National Taiwan University Hospital Hsinchu Taiwan – sequence: 11 givenname: Sung‐Pin surname: Fan fullname: Fan, Sung‐Pin organization: Department of Neurology National Taiwan University Hospital Taipei Taiwan, Graduate Institute of Clinical Medicine, College of Medicine National Taiwan University Taipei Taiwan – sequence: 12 givenname: Chun‐Hwei surname: Tai fullname: Tai, Chun‐Hwei organization: Department of Neurology National Taiwan University Hospital Taipei Taiwan, Department of Neurology National Taiwan University Hospital Hsinchu Taiwan – sequence: 13 givenname: Han‐Lin orcidid: 0000-0002-0768-0059 surname: Chiang fullname: Chiang, Han‐Lin organization: Division of General Neurology, Department of Neurology Neurological Institute, Taipei Veterans General Hospital Taipei Taiwan, School of Medicine, College of Medicine National Yang Ming Chiao Tung University Taipei Taiwan – sequence: 14 givenname: Chun‐Yu orcidid: 0000-0003-4284-8918 surname: Chen fullname: Chen, Chun‐Yu organization: Division of General Neurology, Department of Neurology Neurological Institute, Taipei Veterans General Hospital Taipei Taiwan, School of Medicine, College of Medicine National Yang Ming Chiao Tung University Taipei Taiwan – sequence: 15 givenname: Tsung‐Lin surname: Lee fullname: Lee, Tsung‐Lin organization: Department of Neurology National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University Tainan Taiwan, Department of Biomedical Engineering National Cheng Kung University Tainan Taiwan – sequence: 16 givenname: Koping surname: Chang fullname: Chang, Koping organization: Department of Pathology National Taiwan University Hospital Taipei Taiwan – sequence: 17 givenname: Chin‐Song surname: Lu fullname: Lu, Chin‐Song organization: Professor Lu Neurological Clinic Taoyuan Taiwan, Department of Neurology Landseed International Hospital Taoyuan Taiwan – sequence: 18 givenname: Hsiu‐Chen surname: Chang fullname: Chang, Hsiu‐Chen organization: Professor Lu Neurological Clinic Taoyuan Taiwan – sequence: 19 givenname: Yi‐Syuan surname: Ke fullname: Ke, Yi‐Syuan organization: Department of Public Health and Institute of Health Data Analytics and Statistics, College of Public Health National Taiwan University Taipei Taiwan – sequence: 20 givenname: Yen‐Chen Anne surname: Feng fullname: Feng, Yen‐Chen Anne organization: Department of Public Health and Institute of Health Data Analytics and Statistics, College of Public Health National Taiwan University Taipei Taiwan – sequence: 21 givenname: Jacob Shujui surname: Hsu fullname: Hsu, Jacob Shujui organization: Graduate Institute of Medical Genomics and Proteomics, College of Medicine National Taiwan University Taipei Taiwan, Institute of Molecular Medicine National Taiwan University College of Medicine Taipei Taiwan – sequence: 22 givenname: Chin‐Hsien orcidid: 0000-0001-8566-7573 surname: Lin fullname: Lin, Chin‐Hsien organization: Department of Neurology National Taiwan University Hospital Taipei Taiwan, Graduate Institute of Biomedical Engineering, College of Medical Science and Technology National Taiwan University Taipei Taiwan, Graduate Institute of Molecular Medicine, College of Medicine National Taiwan University Taipei Taiwan, Graduate Institute of Brain and Mind Sciences, College of Medicine National Taiwan University Taipei Taiwan |
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| Keywords | neuronal intranuclear inclusion body disease multiple system atrophy repeat expansion fragile X‐associated tremor/ataxia syndrome progressive supranuclear palsy |
| Language | English |
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| Snippet | Repeat expansions in NOTCH2NLC and FMR1 share clinical features, including parkinsonism and ataxia, resembling atypical parkinsonian syndromes. We analyzed... |
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| Title | Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/40879637 |
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