Journal Title
Title of Journal: Cerebellum
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Abbravation: The Cerebellum
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Authors: Yuting Shi Chunrong Wang Fengzhen Huang Zhao Chen Zhanfang Sun Junling Wang Beisha Tang Tetsuo Ashizawa Thomas Klockgether Hong Jiang
Publish Date: 2015/04/14
Volume: 14, Issue: 6, Pages: 677-681
Abstract
Spinocerebellar ataxia type 3SCA3 also known as MachadoJoseph 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 ageadjusted GFAP levels with the number of CAG repeats Ageadjusted 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 durationadjusted 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/MJDassociated neuronal damageWe are grateful to all subjects for their participation in our study The study was supported by the National Basic Research Program 973 Program Nos 2012CB944601 2012CB517902 2011CB510002 to Hong Jiang National Natural Science Foundation of China Nos 81410308019 81471156 81271260 30971585 30871354 30710303061 and 30400262 to Hong Jiang New Century Excellent Talents in University No NCET100836 to Hong Jiang National Science Foundation of Hunan Province for Distinguished Young Scholars No 14JJ1008 to Hong Jiang Natural Science Foundation of Xinjiang Uygur Autonomous Regions No 2013181014 to Hong Jiang and Undergraduate Innovation Project of Central South University No CY12400 to Hong Jiang
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