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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

Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review

Authors:

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

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2020;120(2): 85‑91

DOI: 10.17116/jnevro202012002185

Read: 7939 times

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Table of contents

SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY: THE FIRST RUSSIAN CASE REPORT AND LITERATURE REVIEW
SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY: THE FIRST RUSSIAN CASE REPORT AND LITERATURE REVIEW

To cite this article:

Rudenskaia GE, Kadnikova VA, Ryzhkova OP. Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review. S.S. Korsakov Journal of Neurology and Psychiatry. 2020;120(2):85‑91. (In Russ.)
https://doi.org/10.17116/jnevro202012002185

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:

Spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare autosomal recessive neurodegenerative disease related to SACS gene and characterized by cerebellar, pyramidal and some other signs. The disease was delineated in Quebec, where it cumulates due to founder effect and has similar phenotype with very early onset. ARSACS in other populations is more variable. The first Russian case of ARSACS in a 37-year-old woman, an only patient in a Lak (one of Dagestan ethnicities) family, is presented. Along with main typical features, she had atypical late disease onset (in 32 years) and moderate cognitive decline. MPS-panel «hereditary paraplegias» detected an earlier reported homo- or hemizygous mutation c.72276C>T (p.Arg2426Stop) in SACS exon 10.

Keywords:

spastic ataxia of Charlevoix-Saguenay
ARSACS
SACS gene
massive exome sequencing MPS
clinical variability
age of onset

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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