Phenotypic features of a Russian family with spinocerebellar ataxia type 6 from Khabarovsk Krai
| Autor: | Tatyana N. Proskokova, Dmitry V. I., Natal’ya B. Serdyuk, Natal’ya Yu. Abramycheva |
|---|---|
| Jazyk: | English<br />Russian |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Анналы клинической и экспериментальной неврологии, Vol 15, Iss 2, Pp 89-94 (2021) |
| Druh dokumentu: | article |
| ISSN: | 2075-5473 2409-2533 |
| DOI: | 10.25692/ACEN.2021.2.11 |
| Popis: | The article presents a familial case of spinocerebellar ataxia type 6, consisting of 7 people across 4 generations from a mixed marriage of Yakut, Even, and Russian ethnicities, living in Khabarovsk Krai. The mutant allele of the CACNA1A gene had 27 stable CAG repeats in all patients (normal is 18 CAG repeats), while the normal allele had 13 CAG repeats. Clinical features included rapidly progressing cerebellar ataxia in males (0.969.00 points per year on the SARA scale); presence of psychological disorders in the form of alcoholism, early-onset binge drinking, completed suicidal behaviors; life expectancy reduced in 2 patients to 27 and 36 years. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|