title: High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression.
abstract: Spinocerebellar ataxia type 3(SCA3), also known as Machado-Joseph disease (MJD), is the most frequent subtype of autosomal dominant inherited spinocerebellar ataxias, which caused by the expansion of CAG repeats in the ATXN3 gene. The number of CAG repeats of the abnormal allele determines the rate of disease progression in patients with SCA3/MJD. Markers to assess the clinical severity, to predict the course of illness and to monitor the efficacy of therapeutic measures, can be clinical, biological, and radiological. Here, we aimed to explore whether the serum glial fibrillary acidic protein (GFAP) may act as a biomarker in SCA3/MJD patients and to evaluate the correlation between some markers with the number of CAG repeats in SCA3/MJD patients. We showed that the serum levels of GFAP were significantly higher in SCA3/MJD patients than in controls. There was a strong positive correlation between the age-adjusted GFAP levels with the number of CAG repeats. Age-adjusted International Cooperative Ataxia Rating Scale (ICARS) scores and Scale for the Assessment and Rating of Ataxia (SARA) scores correlated with the number of CAG repeats. Raw scores and disease duration-adjusted GFAP levels, ICARS scores, and SARA scores were not correlated with the number of CAG repeats. Our results reveal novel evidence for the role of the triplet expansion in SCA3/MJD-associated neuronal damage.
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.
authors: Yuting
authors: Y
authors: Shi
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.
authors: Chunrong
authors: C
authors: Wang
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.|Department of Neurology and Institute of Translational Medicine, University of South China, The First People's Hospital of Chenzhou, Chenzhou, China.
authors: Fengzhen
authors: F
authors: Huang
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.
authors: Zhao
authors: Z
authors: Chen
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.
authors: Zhanfang
authors: Z
authors: Sun
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, People's Republic of China.
authors: Junling
authors: J
authors: Wang
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, People's Republic of China.|State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, 410078, People's Republic of China.
authors: Beisha
authors: B
authors: Tang
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.|Department of Neurology, University of Florida, Gainesville, FL, 32610, USA.
authors: Tetsuo
authors: T
authors: Ashizawa
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China.|Department of Neurology, University Hospital of Bonn, Bonn, Germany.
authors: Thomas
authors: T
authors: Klockgether
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, People's Republic of China. jianghong73868@126.com.|State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, 410078, People's Republic of China. jianghong73868@126.com.
authors: Hong
authors: H
authors: Jiang
mesh_terms: D000328:Adult; D000067699:Ataxin-3 / Q000235:genetics; D015415:Biomarkers / Q000097:blood; D001774:Blood Chemical Analysis; D018450:Disease Progression; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000097:blood*; D006801:Humans; D007118:Immunoassay; D017827:Machado-Joseph Disease / Q000097:blood* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins / Q000235:genetics; D012720:Severity of Illness Index; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult
chemical_list: D015415:Biomarkers; D005904:Glial Fibrillary Acidic Protein; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3
keywords: ATXN3; Biomarker; CAG; GFAP; SCA3/MJD