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Hereditaty spastic paraplegias: new findings and rare phenotypes
https://doi.org/10.25557/2073-7998.2025.08.100-105
Abstract
Hereditary spastic paraplegias are characterized by prominent clinical and genetic heterogeneity. The number of forms with established genes (SPG numbered in the order of genes discovering) came up to 94; few more have individual titles based on gene name or phenotype. SPG scientific research and practical diagnostics are performed in RCMG using modern methods of DNA analysis, MPS panel in particular. In 2023, we set up a new panel including 179 genes: SPGs and numerous genocopies. By now, our SPG group counts 278 families with 36 different forms. More than half of 254 pathogenic variants detected in 36 genes were novel. Several cases found out in the last 4 years (period after Russian Society of Medical Genetics previous congress) are presented, recently discovered forms and atypical phenotypes among them.
Supporting agencies: The study was carried out according to the state assignment of the Ministry of science and higher education of the Russian Federation for the Research Centre for Medical Genetics
About the Authors
G. E. Rudenskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
V. A. Kadnikova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
F. M. Bostanova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
I. V. Sharkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
M. S. Petukhova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
E. S. Nagieva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
L. A. Bessonova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
T. V. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
O. A. Shchagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
115522; 1, Moskvorechie st.; Moscow
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Review
For citations:
Rudenskaya G.E., Kadnikova V.A., Bostanova F.M., Sharkova I.V., Petukhova M.S., Nagieva E.S., Bessonova L.A., Markova T.V., Shchagina O.A., Ryzhkova O.P. Hereditaty spastic paraplegias: new findings and rare phenotypes. Medical Genetics. 2025;24(8):100-105. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.100-105
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