Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in mainland China A case report

• Published in: 中国神经再生研究（英文版） Vol. 6; no. 26; pp. 2047 - 2049
• Main Authors: Lifang Lei, Junling Wang, Shen Zhang, Hong Jiang, Lu Shen, Qian Xu, Xinxiang Yan, Yi Yuan, Qian Pan, Kun Xia, Beisha Tang
• Format: Journal Article
• Language: English
• Published: Department of Neurology,Xiangya Third Hospital,Central South University,Changsha 410013,Hunan Province,China%Department of Neurology,Xiangya Hospital,Central South University,Changsha 410008,Hunan Province,China%National Laboratory of Medical Genetics of China,Changsha 410008,Hunan Province,China 15.09.2011; Department of Neurology,Xiangya Hospital,Central South University,Changsha 410008,Hunan Province,China
• Subjects: genetic counseling; CAG-trinucleotide repeats; spinocerebellar ataxia type 3/Machado-Joseph disease; prenatal diagnosis
• ISSN: 1673-5374
• DOI: 10.3969/j.issn.1673-5374.2011.26.009

R742.82; Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive, currently untreatable and ultimately fatal ataxic disorder that belongs to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Here, we present the first prenatal diagnosis of SCA3/MJD in mainland China in a woman who was known to carry an expanded CAG-trinucleotide repeat in the MJD1 gene. After evaluating motivation and psychological tolerance of the couple, amniocentesis was performed after 14 weeks of gestation. Polymerase chain reactions followed by T-vector cloning and direct sequencing were employed to evaluate the CAG-repeat number of the fetal MJD1 gene. We identified a truncated CAG expansion of 78 repeats in the MJD1 gene of the fetus compared with 81 repeats in his mother.