Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia
- Autores: Akhmetgaleyeva A.1, Khidiyatova I.1,2, Saifullina E.2, Idrisova R.3, Magzhanov R.4, Khusnutdinova E.1,2
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Afiliações:
- Institute of Biochemistry and Genetics, Ufa Scientific Center
- Bashkir State University
- Kuvatov Republican Clinic Hospital
- Bashkir State Medical University
- Edição: Volume 52, Nº 6 (2016)
- Páginas: 603-607
- Seção: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/187750
- DOI: https://doi.org/10.1134/S1022795416060028
- ID: 187750
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Resumo
Hereditary spastik paraplegias (HSP) are a group of neurodegenerative disorders with primary lesion of the pyramidal tract. The most frequent autosomal dominant form of the disease in Europeans is HSP associated with mutations in the spastin gene (SPG4). Analysis of the gene SPG4 was carried out in 52 unrelated families with HSP from Bashkortostan by SSCP and following sequencing. Previously undescribed frameshift mutations c.322del29 (p.Val108SerfsX18) and c.885del10 (p.Thr295ThrfsX16) were detected in two unrelated families. Clinical studies have shown that, in both families, the disease corresponds to an uncomplicated form of hereditary spastic paraplegia, a main feature of which is the lower spastic paraparesis without any other symptoms.
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Sobre autores
A. Akhmetgaleyeva
Institute of Biochemistry and Genetics, Ufa Scientific Center
Autor responsável pela correspondência
Email: aliya.akhmetgaleeva@mail.ru
Rússia, Ufa, 450054
I. Khidiyatova
Institute of Biochemistry and Genetics, Ufa Scientific Center; Bashkir State University
Email: aliya.akhmetgaleeva@mail.ru
Rússia, Ufa, 450054; Ufa, 450074
E. Saifullina
Bashkir State University
Email: aliya.akhmetgaleeva@mail.ru
Rússia, Ufa, 450074
R. Idrisova
Kuvatov Republican Clinic Hospital
Email: aliya.akhmetgaleeva@mail.ru
Rússia, Ufa, 450005
R. Magzhanov
Bashkir State Medical University
Email: aliya.akhmetgaleeva@mail.ru
Rússia, Ufa, 450000
E. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Scientific Center; Bashkir State University
Email: aliya.akhmetgaleeva@mail.ru
Rússia, Ufa, 450054; Ufa, 450074