Predominant right temporal and frontal brain atrophy and progressive behavioral dementia. A case of prion gene mutation (PRNP)

Heterozygous c.623G>A (p.Arg208His) genotype may be responsible for FTD phenotype. This case shows the necessity of genetic testing for possible mutations in the prion gene in patients with bvFTD and positive family history of dementia.

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Publication Details

Journal
Neurocase
Published
2025-04-12
DOI
https://doi.org/10.1080/13554794.2025.2491746
Primary Topic
Prion Diseases and Protein Misfolding
Type
article
Field-Weighted Citation Impact
0.00
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article

Predominant right temporal and frontal brain atrophy and progressive behavioral dementia. A case of prion gene mutation (PRNP)

Andreas Kyrozis, Efthalia Angelopoulou, Christos Κroupis, Christos Koros et al.
Neurocase
Prion Diseases and Protein Misfolding
article

Predominant right temporal and frontal brain atrophy and progressive behavioral dementia. A case of prion gene mutation (PRNP)

Andreas Kyrozis, Efthalia Angelopoulou, Christos Κroupis, Christos Koros, Evangelia Stanitsa, A. Koulouris, Sokratis G. Papageorgiou, Vasilios C. Constantinides, Georgios Velonakis, Evangelos Koumasopoulos, Leonidas Stefanis, Chrysoula Michaletou, Vasiliki Barbarousi, Savvas Konstantinos Alevetsovitis
article en

Abstract

Heterozygous c.623G>A (p.Arg208His) genotype may be responsible for FTD phenotype. This case shows the necessity of genetic testing for possible mutations in the prion gene in patients with bvFTD and positive family history of dementia.

NeurocaseVol. 31(4)
National and Kapodistrian University of Athens (GR), Eginition Hospital (GR)
Openalex Percentile: Top 93%
Prion Diseases and Protein Misfolding
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