Clinical case of sporadic spastic paraplegia with the novel mutation in the SPAST gene
https://doi.org/10.1234/XXXX-XXXX-2016-7-11-13
Abstract
Timeliness. Hereditary spastic paraplegia (HSP) - a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs. The aim. Clinical and genetic study of patient with the sporadic form of spastic paraplegia. Methods. DNA sample from patient with a sporadic form of spastic paraplegia and the DNA samples from 150 healthy individuals. Mutations identifications was carried out by direct sequencing. Results. We identified previously undescribed mutation c.1114A> G (p.Arg372Gly) in the eighth exon of SPAST gene in this patient. The clinical picture of HSP in this case corresponds to the uncomplicated form of the disease. Conclusions. This data supplement information on the clinic features and genetic of hereditary spastic paraplegia, and contribute to the development of the algorithm of DNA-diagnostics of the disease, optimal for the study region.
About the Authors
A. F. Akhmetgaleyeva
Институт биохимии и генетики Уфимского научного центра РАН
Russian Federation
Russian Federation
I. M. Khidiyatova
Институт биохимии и генетики Уфимского научного центра РАН; Башкирский государственный университет
Russian Federation
Russian Federation
E. V. Saifullina
Башкирский государственный медицинский университет
Russian Federation
Russian Federation
R. F. Idrisova
ГБУЗ Республиканская клиническая больница им. Г.Г.Куватова
Russian Federation
Russian Federation
R. V. Magzhanov
Башкирский государственный медицинский университет
Russian Federation
Russian Federation
E. K. Khusnutdinova
Институт биохимии и генетики Уфимского научного центра РАН; Башкирский государственный университет
Russian Federation
Russian Federation
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Review
For citations:
Akhmetgaleyeva A.F., Khidiyatova I.M., Saifullina E.V., Idrisova R.F., Magzhanov R.V., Khusnutdinova E.K. Clinical case of sporadic spastic paraplegia with the novel mutation in the SPAST gene. Medical Genetics. 2016;15(7):11-13. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-7-11-13
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