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Rudenskaya G.E.

Bochkov Research Centre for Medical Genetics

Konovalov F.A.

Genomed LLC, Laboratory of Clinical Bioinformatics

Illarioshkin S.N.

Research Center of Neurology

Shchagina O.A.

Research Centre for Medical Genetics

Gerstmann—Sträussler disease: a familial case with common PRNP mutation and atypical features

Authors:

Rudenskaya G.E., Konovalov F.A., Illarioshkin S.N., Shchagina O.A.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(2): 138‑143

DOI: 10.17116/jnevro2023123021138

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GERSTMANN—STRÄUSSLER DISEASE: A FAMILIAL CASE WITH COMMON PRNP MUTATION AND ATYPICAL FEATURES
GERSTMANN—STRÄUSSLER DISEASE: A FAMILIAL CASE WITH COMMON PRNP MUTATION AND ATYPICAL FEATURES

To cite this article:

Rudenskaya GE, Konovalov FA, Illarioshkin SN, Shchagina OA. Gerstmann—Sträussler disease: a familial case with common PRNP mutation and atypical features. S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(2):138‑143. (In Russ.)
https://doi.org/10.17116/jnevro2023123021138

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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Abstract:

Gerstmann—Sträussler disease (GSD) is a very rare autosomal dominant late-onset neurodegenerative disorder related to prion protein gene PRNP. Mutation p.Pro102Leu produces about 80% of cases, which are often named GSD-102. DNA testing provides exact diagnosis. In the presented Russian family there were 3 patients: a female index case, age 32 years, her brother, age 37 years (age of onset in both is 27 years) and their deceased father (onset in 35 years, death in 44 years). GSD was not suspected until whole exome sequencing in the female detected PRNP mutation p.Pro102Leu confirmed in her and in the brother by Sanger sequencing. Atypical features of the case are: early onset in siblings, absence of mental and behavioral problems in the female and in the father and mild disturbances in the brother; epilepsy in the brother; atypical onset with transient signs in the brother. Other intrafamilial differences are prevailing spastic paraparesis in the female in contrast to predominant ataxia in the brother and dysarthria absence in the female. The case illustrates GSD-102 variability, complicating clinical diagnostics.

Keywords:

prion disorders
Gerstmann—Sträussler disease
PRNP gene
common mutation
p.Pro102Leu
DNA testing
clinical variability

Authors:

Rudenskaya G.E.

Bochkov Research Centre for Medical Genetics

Konovalov F.A.

Genomed LLC, Laboratory of Clinical Bioinformatics

Illarioshkin S.N.

Research Center of Neurology

Shchagina O.A.

Research Centre for Medical Genetics

Received:

27.09.2022

Accepted:

12.10.2022

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