Major Mutation in the SPAST Gene in Patients with Autosomal Dominant Spastic Paraplegia from the Republic of Bashkortostan
- Autores: Khidiyatova I.1,2, Akhmetgaleyeva A.1, Saifullina E.3, Idrisova R.4, Yankina M.1, Shavalieva V.2, Magzhanov R.3, Khusnutdinova E.1,2
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Afiliações:
- Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences
- Bashkir State University
- Bashkir State Medical University
- Republican Clinic Hospital
- Edição: Volume 55, Nº 2 (2019)
- Páginas: 259-262
- Seção: Short Communications
- URL: https://journals.rcsi.science/1022-7954/article/view/189254
- DOI: https://doi.org/10.1134/S1022795419020091
- ID: 189254
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Resumo
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. To date, mutations responsible for the disease have been identified in more than 70 genetic loci. The main causes of HSP development are mutations in the SPAST gene, but major mutations are rare for this disease. Study of HSP patients from 63 unrelated families from the Bashkortostan Republic (BR) identified the c.283delG (p.Ala95Profs*66) mutation in the SPAST gene in families of Tatar ethnicity with a high frequency. In the general cohort of unrelated patients from the Bashkortostan Republic, its frequency was 19%, and in the cohort of Tatar patients, it was 44%. HSP was found to be inherited in an autosomal dominant manner in all families with this mutation. The clinical symptoms of the disease in most of these families corresponded to the uncomplicated phenotype, typical of the SPG4 form of HSP.
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Sobre autores
I. Khidiyatova
Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences; Bashkir State University
Autor responsável pela correspondência
Email: imkhid@mail.ru
Rússia, Ufa, 450054; Ufa, 450076
A. Akhmetgaleyeva
Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences
Email: imkhid@mail.ru
Rússia, Ufa, 450054
E. Saifullina
Bashkir State Medical University
Email: imkhid@mail.ru
Rússia, Ufa, 450000
R. Idrisova
Republican Clinic Hospital
Email: imkhid@mail.ru
Rússia, Ufa, 450005
M. Yankina
Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences
Email: imkhid@mail.ru
Rússia, Ufa, 450054
V. Shavalieva
Bashkir State University
Email: imkhid@mail.ru
Rússia, Ufa, 450076
R. Magzhanov
Bashkir State Medical University
Email: imkhid@mail.ru
Rússia, Ufa, 450000
E. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Federal Research Center, Russian Academy of Sciences; Bashkir State University
Email: imkhid@mail.ru
Rússia, Ufa, 450054; Ufa, 450076