Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias

• Published in: Chinese medical journal Vol. 128; no. 13; pp. 1714 - 1723
• Main Authors: Chen, Jian-Wen, Zhao, Li, Zhang, Feng, Li, Lan, Gu, Yu-Hang, Zhou, Jing-Yuan, Zhang, Hui, Meng, Ming, Zhang, Kai-Hua, Le, Wei-Dong, Dong, Chun-Bo
• Format: Journal Article
• Language: English
• Published: China Medknow Publications Pvt Ltd 05.07.2015; Medknow Publications and Media Pvt. Ltd; Lippincott Williams & Wilkins Ovid Technologies; Department of Neurology, The First Affiliated Hospital of Dalian Medical University, Dalian 116011, China%Department of Neurology, The Second Affiliated Hospital of Dalian Medical University, Dalian 116023, China; Medknow Publications & Media Pvt Ltd; Wolters Kluwer
• Subjects: Adult; Ataxia; Care and treatment; Cerebellar ataxia; Classification; Dementia; Diagnosis; Disease; DNA Repeat Expansion - genetics; Female; Gene mutation; Genetic aspects; Genetic Testing; Radiological Features; Spinocerebellar Ataxias; Trinucleotide Repeat Expansion; Health aspects; Hospitals; Humans; Machado-Joseph Disease - genetics; Machado-Joseph Disease - pathology; Male; Mutation - genetics; Neurology; NMR; Nuclear magnetic resonance; Original; Risk factors; Signal transduction; Spinocerebellar Ataxias - genetics; Spinocerebellar Ataxias - pathology; Trinucleotide Repeat Expansion - genetics; Volumetric analysis; 中国人; 临床特点; 基因突变; 失调; 小脑; 影像学; 特征和; 脊髓; China; Radiological Features; Genetic Testing; Spinocerebellar Ataxias; Trinucleotide Repeat Expansion
• ISSN: 0366-6999; 2542-5641; 2542-5641
• DOI: 10.4103/0366-6999.159340

Background： Spinocerebellar ata~ias （SCAs） are a group ofneurodegenerative disorders that primarily cause the degeneration in the cerebellum, spinal cord, and brainstem. We study the clinical characteristics, radiological features and gene mutation in Chinese families with SCAs. Methods： In this study, we investigated 10 SCAs Chinese families with SCAI, SCA3/Machado-Joseph disease （MJD}, SCA7, SCAB. There were 27 people who were genetically diagnosed as SCA, of which 21 people showed clinical symptoms, and 6 people had no clinical phenotype that we called them presymptomatic patients. In addition, 3 people with cerebellar ataxia and cataracts were diagnosed according to the Harding diagnostic criteria but tailed to be recognized as SCAs on genetic testing. Clinical characteristic analyses of each type of SCAs and radiological examinations were perlbrmed. Results： We found that SCA3/MJD was the most common subtype in Hart population in China, and the ratio of the pontine tegmentum and the posterior fossa area was negatively con＇elated with the number of cytosine-adenine-guanine （CAG） repeats： the disease duration was positively correlated with the International Cooperative Ataxia Rating Scale score; and the CAG repeats number of abnormal alleles was negatively correlated with the age of onset. Conchlsions： Collectively our study is a systematic research on SCAs in China, which may help for the clinical diagnosis and prenatal screening of this disease, and it may also aid toward better understanding of this disease.