Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia
- Authors: Akhmetgaleyeva A.F.1, Khidiyatova I.M.1,2, Saifullina E.V.2, Idrisova R.F.3, Magzhanov R.V.4, Khusnutdinova E.K.1,2
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Affiliations:
- Institute of Biochemistry and Genetics, Ufa Scientific Center
- Bashkir State University
- Kuvatov Republican Clinic Hospital
- Bashkir State Medical University
- Issue: Vol 52, No 6 (2016)
- Pages: 603-607
- Section: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/187750
- DOI: https://doi.org/10.1134/S1022795416060028
- ID: 187750
Cite item
Abstract
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.
About the authors
A. F. Akhmetgaleyeva
Institute of Biochemistry and Genetics, Ufa Scientific Center
Author for correspondence.
Email: aliya.akhmetgaleeva@mail.ru
Russian Federation, Ufa, 450054
I. M. Khidiyatova
Institute of Biochemistry and Genetics, Ufa Scientific Center; Bashkir State University
Email: aliya.akhmetgaleeva@mail.ru
Russian Federation, Ufa, 450054; Ufa, 450074
E. V. Saifullina
Bashkir State University
Email: aliya.akhmetgaleeva@mail.ru
Russian Federation, Ufa, 450074
R. F. Idrisova
Kuvatov Republican Clinic Hospital
Email: aliya.akhmetgaleeva@mail.ru
Russian Federation, Ufa, 450005
R. V. Magzhanov
Bashkir State Medical University
Email: aliya.akhmetgaleeva@mail.ru
Russian Federation, Ufa, 450000
E. K. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Scientific Center; Bashkir State University
Email: aliya.akhmetgaleeva@mail.ru
Russian Federation, Ufa, 450054; Ufa, 450074