Hereditary spastic paraplegias in the era of next generation sequencing: genetic diversity, epidemiology, classification
https://doi.org/10.25557/2073-7998.2018.09.3-12
Abstract
Heterogeneous group of hereditary spastic paraplegias includes by now about 80 forms with mapped and predominantly identified genes: SPG. Many of SPG were recognized recently by methods of next generation sequencing NGS. Aside from new SPG and their allelic variants discovering, NGS modifies knowledge about «old» forms, defines SPG epidemiology and suggests new ways of classifications.
Keywords
наследственные спастические параплегии,
SPG (Spastic Paraplegia Gene),
секвенирование нового поколения (NGS: Next Generation Sequencing),
классификации,
распространенность,
аллельные варианты,
hereditary spastic paraplegias,
SPG (spastic paraplegia gene),
NGS (Next Generation Sequencing),
classification,
prevalence,
allelic variants
About the Authors
G. E. Rudenskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
V. A. Kadnikova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Rudenskaya G.E., Kadnikova V.A., Ryzhkova O.P. Hereditary spastic paraplegias in the era of next generation sequencing: genetic diversity, epidemiology, classification. Medical Genetics. 2018;17(8):3-12. (In Russ.) https://doi.org/10.25557/2073-7998.2018.09.3-12
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