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December 01, 2020; 95 (22) Article

Association of serum neurofilament light and disease severity in patients with spinocerebellar ataxia type 3

Yun Peng, Youming Zhang, Zhao Chen, Huirong Peng, Na Wan, Jennifer Zhang, Jingyi Tang, Puzhi Wang, Yue Xie, Qiyong Cai, Shaohui Liu, Xuewei Zhang, Chunrong Wang, Hongyu Yuan, Tianjiao Li, Linlin Wan, Yuting Shi, Rong Qiu, Thomas Klockgether, Beisha Tang, Weihua Liao, Hong Jiang
First published August 14, 2020, DOI: https://doi.org/10.1212/WNL.0000000000010671
Yun Peng
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Youming Zhang
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Zhao Chen
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Huirong Peng
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Na Wan
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Jennifer Zhang
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Jingyi Tang
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Puzhi Wang
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Yue Xie
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Qiyong Cai
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Shaohui Liu
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Xuewei Zhang
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Chunrong Wang
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Hongyu Yuan
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Tianjiao Li
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Linlin Wan
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Yuting Shi
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Rong Qiu
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Thomas Klockgether
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Beisha Tang
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Weihua Liao
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Hong Jiang
From the Departments of Neurology (Y.P., Z.C., H.P., N.W., P.W., Y.X., H.Y., T.L., L.W., Y.S., B.T., H.J.), Radiology (Y.Z., J.T., W.L.), and Pathology (C.W.), Health Management Center (S.L., X.Z.), and National Clinical Research Center for Geriatric Diseases (B.T., W.L., H.J.), Xiangya Hospital, and School of Computer Science and Engineering (R.Q.), Laboratory of Medical Genetics (B.T., H.J.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (B.T., H.J.), Central South University, Changsha, Hunan, China; Department of Human Genetics (J.Z.), Emory University School of Medicine, Atlanta, GA; Institute of Chemical Biology and Nanomedicine (ICBN) (Q.C.), Hunan University, Changsha, Hunan, China; Department of Neurology (T.K.), University of Bonn; and German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany.
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Association of serum neurofilament light and disease severity in patients with spinocerebellar ataxia type 3
Yun Peng, Youming Zhang, Zhao Chen, Huirong Peng, Na Wan, Jennifer Zhang, Jingyi Tang, Puzhi Wang, Yue Xie, Qiyong Cai, Shaohui Liu, Xuewei Zhang, Chunrong Wang, Hongyu Yuan, Tianjiao Li, Linlin Wan, Yuting Shi, Rong Qiu, Thomas Klockgether, Beisha Tang, Weihua Liao, Hong Jiang
Neurology Dec 2020, 95 (22) e2977-e2987; DOI: 10.1212/WNL.0000000000010671

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Abstract

Objective To investigate serum neurofilament light protein (sNfL) levels in patients with spinocerebellar ataxia type 3 (SCA3) and to determine whether they are associated with disease severity.

Methods This cross-sectional study enrolled 185 healthy controls and 235 ATXN3 mutation carriers (17 asymptomatic stage, 20 preclinical stage, and 198 ataxic stage). We measured sNfL levels with the single molecule array (Simoa) platform. Clinical disease severity was assessed using the Scale of Assessment and Rating of Ataxia (SARA) and the Inventory of Nonataxia Signs (INAS). In a subgroup of 50 ataxic stage patients, we further evaluated the gray matter volume and the integrity of white matter fibers by MRI.

Results sNfL concentrations were elevated in asymptomatic, preclinical, and ataxic ATXN3 mutation carriers compared to controls (12.18 [10.20–13.92], 21.84 [18.37–23.45], 36.06 [30.04–45.90], and 8.24 [5.92–10.84] pg/mL, median [interquartile range], respectively, p < 0.001). sNfL correlated with SARA (r = 0.406, 95% confidence interval [CI] 0.284–0.515, p < 0.0001) and INAS (r = 0.375, 95% CI 0.250–0.487, p < 0.0001), and remained significant after adjustment for age and CAG repeats. In addition, we observed negative correlations of the sNfL with gray matter volume in the left precentral gyrus and the left paracentral lobule as well as with the mean diffusivity in widespread white matter tracts.

Conclusion Our results demonstrate that sNfL levels are increased in SCA3 and are associated with clinical disease severity, which supports sNfL as a biomarker for disease severity in SCA3.

Classification of evidence This study provides Class II evidence that in patients with SCA3, sNfL elevations are associated with clinical disease severity.

Glossary

ANOVA=
analysis of variance;
AUC=
area under the curve;
CI=
confidence interval;
DTI=
diffusion tensor imaging;
FA=
fractional anisotropy;
GM=
gray matter;
INAS=
Inventory of Nonataxia Signs;
MD=
mean diffusivity;
MNI=
Montreal Neurological Institute;
NfL=
neurofilament light protein;
ROC=
receiver operating characteristic;
SARA=
Scale of Assessment and Rating of Ataxia;
SCA3=
spinocerebellar ataxia type 3;
sNfL=
serum neurofilament light;
TBSS=
tract-based spatial statistics;
TE=
echo time;
TR=
repetition time;
WM=
white matter

Footnotes

  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • ↵* These authors contributed equally to this work.

  • Class of Evidence: NPub.org/coe

  • Received December 11, 2019.
  • Accepted in final form June 3, 2020.
  • © 2020 American Academy of Neurology
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