Spinocerebellar ataxia type 2 in China
| العنوان: | Spinocerebellar ataxia type 2 in China |
|---|---|
| المؤلفون: | L. G. Goldfarb, Yong-Xing Zhou, Shoji Tsuji, B.-X. Yang, D.-A. Wang, N. Sambuughin, Hee-Suk Lee, G.-X. Wang, W.-D. Li, L.-S. Zhou, B.-S. Tang |
| المصدر: | Neurology. 51:595-598 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 1998. |
| سنة النشر: | 1998 |
| مصطلحات موضوعية: | Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, Biology, Genetic determinism, Degenerative disease, Trinucleotide Repeats, mental disorders, medicine, Humans, Age of Onset, Allele, Gene, Genes, Dominant, Spinocerebellar Degenerations, Genetics, Middle Aged, medicine.disease, Phenotype, nervous system diseases, Spinocerebellar ataxia, Female, Neurology (clinical), Trinucleotide repeat expansion |
| الوصف: | Sixteen patients from nine Chinese families with spinocerebellar ataxia type 2 (SCA2) were heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats, whereas the normal alleles carried 14 to 28 repeats. One or two CAA triplets within the CAG tract were seen in normal, but not in the expanded alleles. A strong inverse correlation was established between the number of CAG repeats and the age of disease onset. SCA2 accounted for 12% of the known Chinese families with spinocerebellar ataxia. |
| تدمد: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.51.2.595 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b99ee08fb57adcd7ba8d7ae21ce7b5a https://doi.org/10.1212/wnl.51.2.595 |
| رقم الانضمام: | edsair.doi.dedup.....4b99ee08fb57adcd7ba8d7ae21ce7b5a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1526632X 00283878 |
|---|---|
| DOI: | 10.1212/wnl.51.2.595 |