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Rudenskaia G.E.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Kadnikova V.A.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Ryzhkova O.P.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Common forms of hereditary spastic paraplegias

Authors:

Rudenskaia G.E., Kadnikova V.A., Ryzhkova O.P.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2019;119(2): 94‑104

DOI: 10.17116/jnevro201911902194

Read: 2491 times

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Table of contents

COMMON FORMS OF HEREDITARY SPASTIC PARAPLEGIAS
COMMON FORMS OF HEREDITARY SPASTIC PARAPLEGIAS

To cite this article:

Rudenskaia GE, Kadnikova VA, Ryzhkova OP. Common forms of hereditary spastic paraplegias. S.S. Korsakov Journal of Neurology and Psychiatry. 2019;119(2):94‑104. (In Russ.)
https://doi.org/10.17116/jnevro201911902194

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

A group of hereditary spastic paraplegias includes about 80 spastic paraplegia genes (SPG): forms with identified (almost 70) or only mapped (about 10) genes. Methods of next generation sequencing (NGS), along with new SPG discovering, modify knowledge about earlier delineated SPG. Clinical and genetic characteristics of common autosomal dominant (SPG4, SPG3, SPG31) and autosomal recessive (SPG11, SPG7, SPG15) forms are presented.

Keywords:

hereditary spastic paraplegias
clinical and genetic variability
SPG4
SPG3
SPG31
SPG11
SPG7
SPG15
NGS (Next Generation Sequencing)

Authors:

Rudenskaia G.E.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Kadnikova V.A.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Ryzhkova O.P.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Close metadata

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