TY - JOUR
T1 - Blood Neurofilament Light Chain in Genetic Ataxia
T2 - A Meta-Analysis
AU - Peng, Linliu
AU - Wang, Shang
AU - Chen, Zhao
AU - Peng, Yun
AU - Wang, Chunrong
AU - Long, Zhe
AU - Peng, Huirong
AU - Shi, Yuting
AU - Hou, Xuan
AU - Lei, Lijing
AU - Wan, Linlin
AU - Liu, Mingjie
AU - Zou, Guangdong
AU - Shen, Lu
AU - Xia, Kun
AU - Qiu, Rong
AU - Tang, Beisha
AU - Ashizawa, Tetsuo
AU - Klockgether, Thomas
AU - Jiang, Hong
N1 - Funding Information:
: This study was funded by the National Key Research and Development Program of China (No. 2016YFC0905100 and No. 2016YFC0901504 to H. Jiang; No. 2016YFC1306000 to B. Tang), the National Natural Science Foundation of China (No. 81771231 and No. 81974176 to H. Jiang; No. 81901169 to Z. Chen; No. 81901305 to C. Wang; No. 81600995 to Y. Shi), the Innovation Research Group Project of Natural Science Foundation of Hunan Province (No. 2020JJ1008 to H. Jiang), the Science and Technology Innovation Group of Hunan Province (No. 2020RC4043 to H. Jiang), the Scientific Research Foundation of Health Commission of Hunan Province (No. B2019183 to H. Jiang), the Key Research and Development Program of Hunan Province (No. 2020SK2064 and No. 2018SK2092 to H. Jiang), the Innovative Research and Development Program of Development and Reform Commission of Hunan Province to H. Jiang, the Natural Science Foundation of Hunan Province (No. 2019JJ40363 to R. Qiu), the Clinical and Rehabilitation Funds of Peking University Weiming Biotech Group (No. xywm2015I10 to H. Jiang), the Project Program of National Clinical Research Center for Geriatric Disorders (Xiangya Hospital, No. 2020LNJJ12 and No. XYYYJSTG‐05 to H. Jiang), and the Youth Foundation of Xiangya Hospital (No. 2017Q03 to Z. Chen, No. 2018Q05 to C. Wang). Funding agencies
Publisher Copyright:
© 2021 International Parkinson and Movement Disorder Society
PY - 2022/1
Y1 - 2022/1
N2 - BACKGROUND: No comprehensive meta-analysis has ever been performed to assess the value of neurofilament light chain (NfL) as a biomarker in genetic ataxia.OBJECTIVE: We conducted a meta-analysis to summarize NfL concentration and evaluate its utility as a biomarker in genetic ataxia.METHODS: Studies were included if they reported NfL concentration of genetic ataxia. We used log (mean ± SD) NfL to describe mean raw value of NfL. The effect size of NfL between genetic ataxia and healthy controls (HC) was expressed by mean difference. Correlation between NfL and disease severity was calculated.RESULTS: We identified 11 studies of 624 HC and 1006 patients, here referred to as spinocerebellar ataxia (SCA1, 2, 3, 6, and 7), Friedreich ataxia (FRDA), and ataxia telangiectasia (A-T). The concentration of blood NfL (bNfL) elevated with proximity to expected onset, and progressively increased from asymptomatic to preclinical to clinical stage in SCA3. Compared with HC, bNfL levels were significantly higher in SCA1, 2, 3, and 7, FRDA, as well as A-T, and the difference increased with the advancing disease in SCA3. bNfL levels correlated with disease severity in SCA3. There was a significant correlation between bNfL and longitudinal progression in SCA3. Additionally, bNfL increased with age in HC, yet this is probably masked by higher disease-related effects on bNfL in genetic ataxia.CONCLUSIONS: bNfL can be used as a potential biomarker to predict disease onset, severity, and progression of genetic ataxia. Reference-value setting of bNfL should be divided according to age. © 2021 International Parkinson and Movement Disorder Society.
AB - BACKGROUND: No comprehensive meta-analysis has ever been performed to assess the value of neurofilament light chain (NfL) as a biomarker in genetic ataxia.OBJECTIVE: We conducted a meta-analysis to summarize NfL concentration and evaluate its utility as a biomarker in genetic ataxia.METHODS: Studies were included if they reported NfL concentration of genetic ataxia. We used log (mean ± SD) NfL to describe mean raw value of NfL. The effect size of NfL between genetic ataxia and healthy controls (HC) was expressed by mean difference. Correlation between NfL and disease severity was calculated.RESULTS: We identified 11 studies of 624 HC and 1006 patients, here referred to as spinocerebellar ataxia (SCA1, 2, 3, 6, and 7), Friedreich ataxia (FRDA), and ataxia telangiectasia (A-T). The concentration of blood NfL (bNfL) elevated with proximity to expected onset, and progressively increased from asymptomatic to preclinical to clinical stage in SCA3. Compared with HC, bNfL levels were significantly higher in SCA1, 2, 3, and 7, FRDA, as well as A-T, and the difference increased with the advancing disease in SCA3. bNfL levels correlated with disease severity in SCA3. There was a significant correlation between bNfL and longitudinal progression in SCA3. Additionally, bNfL increased with age in HC, yet this is probably masked by higher disease-related effects on bNfL in genetic ataxia.CONCLUSIONS: bNfL can be used as a potential biomarker to predict disease onset, severity, and progression of genetic ataxia. Reference-value setting of bNfL should be divided according to age. © 2021 International Parkinson and Movement Disorder Society.
KW - Biomarkers
KW - Cerebellar Ataxia
KW - Friedreich Ataxia
KW - Humans
KW - Intermediate Filaments
KW - Spinocerebellar Ataxias
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U2 - 10.1002/mds.28783
DO - 10.1002/mds.28783
M3 - Article
C2 - 34519102
AN - SCOPUS:85114821930
SN - 0885-3185
VL - 37
SP - 171
EP - 181
JO - Movement Disorders
JF - Movement Disorders
IS - 1
ER -