Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals

Taiwan PSP/CBS consortium

doi:10.1002/mds.30290

Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals

Taiwan PSP/CBS consortium

醫學影像暨放射科學系(含學碩博士班)

National Taiwan University
Chang Gung Memorial Hospital
Chang Gung University
Veterans General Hospital-Taipei
National Yang Ming Chiao Tung University
National Cheng Kung University
Professor Lu Neurological Clinic
Landseed International Hospital

研究成果: 期刊稿件 › 文章 › 同行評審

2 引文斯高帕斯（Scopus）

摘要

BACKGROUND: 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.

METHODS: 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.

RESULTS: 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.

原文	英語
頁（從 - 到）	2002-2008
頁數	7
期刊	Movement Disorders
卷	40
發行號	9
DOIs	https://doi.org/10.1002/mds.30290
出版狀態	已出版 - 09 2025

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Publisher Copyright:
© 2025 International Parkinson and Movement Disorder Society.

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10.1002/mds.30290

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@article{4a99aefb197745ac85e642ce28b7d33d,

title = "Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals",

abstract = "BACKGROUND: 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.METHODS: 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.RESULTS: 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.CONCLUSIONS: NOTCH2NLC expansions may mimic PSP and MSA in early stages, warranting careful genetic evaluation. {\textcopyright} 2025 International Parkinson and Movement Disorder Society.",

keywords = "fragile X-associated tremor/ataxia syndrome, multiple system atrophy, neuronal intranuclear inclusion body disease, progressive supranuclear palsy, repeat expansion",

author = "\{Taiwan PSP/CBS consortium\} and Chen, \{Pin Shiuan\} and Liu, \{Yi Ling\} and Chiang, \{Pu Tien\} and Tsai, \{Hsin Hsi\} and Lee, \{Ming Jen\} and Chang, \{Yang Yee\} and Lan, \{Min Yu\} and Wu, \{Yih Ru\} and Hsiao, \{Ing Tsung\} and Li, \{Cheng Hsuan\} and Fan, \{Sung Pin\} and Tai, \{Chun Hwei\} and Chiang, \{Han Lin\} and Chen, \{Chun Yu\} and Lee, \{Tsung Lin\} and Koping Chang and Lu, \{Chin Song\} and Chang, \{Hsiu Chen\} and Ke, \{Yi Syuan\} and Feng, \{Yen Chen Anne\} and Hsu, \{Jacob Shujui\} and Lin, \{Chin Hsien\}",

note = "Publisher Copyright: {\textcopyright} 2025 International Parkinson and Movement Disorder Society.",

year = "2025",

month = sep,

doi = "10.1002/mds.30290",

language = "英语",

volume = "40",

pages = "2002--2008",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",

number = "9",

}

TY - JOUR

T1 - Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals

AU - Taiwan PSP/CBS consortium

AU - Chen, Pin Shiuan

AU - Liu, Yi Ling

AU - Chiang, Pu Tien

AU - Tsai, Hsin Hsi

AU - Lee, Ming Jen

AU - Chang, Yang Yee

AU - Lan, Min Yu

AU - Wu, Yih Ru

AU - Hsiao, Ing Tsung

AU - Li, Cheng Hsuan

AU - Fan, Sung Pin

AU - Tai, Chun Hwei

AU - Chiang, Han Lin

AU - Chen, Chun Yu

AU - Lee, Tsung Lin

AU - Chang, Koping

AU - Lu, Chin Song

AU - Chang, Hsiu Chen

AU - Ke, Yi Syuan

AU - Feng, Yen Chen Anne

AU - Hsu, Jacob Shujui

AU - Lin, Chin Hsien

PY - 2025/9

Y1 - 2025/9

N2 - BACKGROUND: 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.METHODS: 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.RESULTS: 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.CONCLUSIONS: NOTCH2NLC expansions may mimic PSP and MSA in early stages, warranting careful genetic evaluation. © 2025 International Parkinson and Movement Disorder Society.

AB - BACKGROUND: 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.METHODS: 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.RESULTS: 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.CONCLUSIONS: NOTCH2NLC expansions may mimic PSP and MSA in early stages, warranting careful genetic evaluation. © 2025 International Parkinson and Movement Disorder Society.

KW - fragile X-associated tremor/ataxia syndrome

KW - multiple system atrophy

KW - neuronal intranuclear inclusion body disease

KW - progressive supranuclear palsy

KW - repeat expansion

UR - https://www.scopus.com/pages/publications/105012471824

U2 - 10.1002/mds.30290

DO - 10.1002/mds.30290

M3 - 文章

C2 - 40879637

AN - SCOPUS:105012471824

SN - 0885-3185

VL - 40

SP - 2002

EP - 2008

JO - Movement Disorders

JF - Movement Disorders

IS - 9

ER -

Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals

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