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Katunina E.A.

Federal Center of Brain Research and Neurotechnologies, Moscow, Russia;
Pirogov Russian National Research Medical University, Moscow, Russia

Putyatin I.A.

Pirogov Russian National Research Medical University, Moscow, Russia

Dolgushin M.B.

Federal Center of Brain Research and Neurotechnologies, Moscow, Russia

Nadelyaev R.V.

Federal Center of Brain Research and Neurotechnologies, Moscow, Russia

Gerstmann—Sträussler—Scheinker disease

Authors:

Katunina E.A., Putyatin I.A., Dolgushin M.B., Nadelyaev R.V.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2026;126(4): 143‑149

DOI: 10.17116/jnevro2026126041143

Read: 447 times

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Table of contents

GERSTMANN—STRÄUSSLER—SCHEINKER DISEASE
GERSTMANN—STRÄUSSLER—SCHEINKER DISEASE

To cite this article:

Katunina EA, Putyatin IA, Dolgushin MB, Nadelyaev RV. Gerstmann—Sträussler—Scheinker disease. S.S. Korsakov Journal of Neurology and Psychiatry. 2026;126(4):143‑149. (In Russ.)
https://doi.org/10.17116/jnevro2026126041143

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:

Prion diseases are a group of rare neurodegenerative diseases with a challenging diagnosis due to their phenotypic heterogeneity. One of the genetic forms of prion proteopathies is Gerstmann—Sträussler—Scheinker disease (GSSD). The article presents a clinical case of a patient with progressive cerebellar ataxia and mild cognitive and behavioral disorders who has been verified as having GSSD. The specific feature of the case was the use of positron emission tomography with 18F-fluorodeoxyglucose to identify regional metabolic disorders in the basal ganglia and cerebellum before the appearance of MRI changes and apparent clinical manifestations. The challenges of differential diagnosis with other neurodegenerative diseases associated with cognitive and cerebellar disorders, as well as the relevance of considering prion diseases in this differential diagnosis, are discussed.

Keywords:

prion diseases
Gerstmann—Sträussler—Scheinker disease
PRNP gene
positron emission tomography
neurodegenerative diseases

Authors:

Katunina E.A.

Federal Center of Brain Research and Neurotechnologies, Moscow, Russia;
Pirogov Russian National Research Medical University, Moscow, Russia

Putyatin I.A.

Pirogov Russian National Research Medical University, Moscow, Russia

Dolgushin M.B.

Federal Center of Brain Research and Neurotechnologies, Moscow, Russia

Nadelyaev R.V.

Federal Center of Brain Research and Neurotechnologies, Moscow, Russia

Received:

19.01.2026

Accepted:

20.01.2026

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References:

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