| Autor: |
Khidiyatova, I. M., Saifullina, E. V., Karunas, A. S., Akhmetgaleyeva, A. F., Kutlubaeva, R. F., Smakova, L. A., Lobov, S. L., Polyakov, A. V., Shchagina, O. A., Kadnikova, V. A., Ryzhkova, O. P., Magzhanov, R. V., Khusnutdinova, E. K. |
| Předmět: |
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| Zdroj: |
Russian Journal of Genetics; Sep2022, Vol. 58 Issue 9, p1145-1153, 9p |
| Abstrakt: |
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. The autosomal dominant form of SPG3A, associated with mutations in the ATL1 gene, is one of the most common forms of HSP in European populations. Analysis of the ATL1 gene was performed in 63 unrelated families with HSP from the Republic of Bashkortostan. Two pathogenic variants were identified: one patient had a duplication of the entire third exon, and seven patients from three unrelated families had a missense mutation c.1246C>T (p.Arg416Cys). The frequency of SPG3A among unrelated patients in Bashkortostan was 6.3%. In one of the examined families, the origin of the c.1246C>T de novo mutation was established. The clinical symptoms of the disease in most cases correspond to uncomplicated HSP occurring in a mild form. Intrafamilial differences in clinical manifestations of the disease, including in identical twins, were revealed. The age of manifestation in the majority of examined patients ranged from 10 to 50 years. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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