A Case of Gerstmann-Sträussler-Scheinker Disease

BACKGROUND: Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. CASE REPORT: A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well d...

Descripción completa

Detalles Bibliográficos
Autores principales: Park, Min Jeong, Jo, Hee Young, Cheon, Sang-Myung, Choi, Sun Seob, Kim, Yong-Sun, Kim, Jae Woo
Formato: Texto
Lenguaje:English
Publicado: Korean Neurological Association 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851297/
https://www.ncbi.nlm.nih.gov/pubmed/20386644
http://dx.doi.org/10.3988/jcn.2010.6.1.46
_version_ 1782179859571671040
author Park, Min Jeong
Jo, Hee Young
Cheon, Sang-Myung
Choi, Sun Seob
Kim, Yong-Sun
Kim, Jae Woo
author_facet Park, Min Jeong
Jo, Hee Young
Cheon, Sang-Myung
Choi, Sun Seob
Kim, Yong-Sun
Kim, Jae Woo
author_sort Park, Min Jeong
collection PubMed
description BACKGROUND: Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. CASE REPORT: A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evident in MRI, especially in diffusion-weighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-to-leucine) mutation in codon 102. CONCLUSIONS: This is the first reported case of GSS (confirmed by PRNP analysis) in Korea. Distinctive MRI findings are also presented.
format Text
id pubmed-2851297
institution National Center for Biotechnology Information
language English
publishDate 2010
publisher Korean Neurological Association
record_format MEDLINE/PubMed
spelling pubmed-28512972010-04-12 A Case of Gerstmann-Sträussler-Scheinker Disease Park, Min Jeong Jo, Hee Young Cheon, Sang-Myung Choi, Sun Seob Kim, Yong-Sun Kim, Jae Woo J Clin Neurol Case Report BACKGROUND: Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. CASE REPORT: A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evident in MRI, especially in diffusion-weighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-to-leucine) mutation in codon 102. CONCLUSIONS: This is the first reported case of GSS (confirmed by PRNP analysis) in Korea. Distinctive MRI findings are also presented. Korean Neurological Association 2010-03 2010-03-26 /pmc/articles/PMC2851297/ /pubmed/20386644 http://dx.doi.org/10.3988/jcn.2010.6.1.46 Text en Copyright © 2010 Korean Neurological Association
spellingShingle Case Report
Park, Min Jeong
Jo, Hee Young
Cheon, Sang-Myung
Choi, Sun Seob
Kim, Yong-Sun
Kim, Jae Woo
A Case of Gerstmann-Sträussler-Scheinker Disease
title A Case of Gerstmann-Sträussler-Scheinker Disease
title_full A Case of Gerstmann-Sträussler-Scheinker Disease
title_fullStr A Case of Gerstmann-Sträussler-Scheinker Disease
title_full_unstemmed A Case of Gerstmann-Sträussler-Scheinker Disease
title_short A Case of Gerstmann-Sträussler-Scheinker Disease
title_sort case of gerstmann-sträussler-scheinker disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851297/
https://www.ncbi.nlm.nih.gov/pubmed/20386644
http://dx.doi.org/10.3988/jcn.2010.6.1.46
work_keys_str_mv AT parkminjeong acaseofgerstmannstrausslerscheinkerdisease
AT joheeyoung acaseofgerstmannstrausslerscheinkerdisease
AT cheonsangmyung acaseofgerstmannstrausslerscheinkerdisease
AT choisunseob acaseofgerstmannstrausslerscheinkerdisease
AT kimyongsun acaseofgerstmannstrausslerscheinkerdisease
AT kimjaewoo acaseofgerstmannstrausslerscheinkerdisease
AT parkminjeong caseofgerstmannstrausslerscheinkerdisease
AT joheeyoung caseofgerstmannstrausslerscheinkerdisease
AT cheonsangmyung caseofgerstmannstrausslerscheinkerdisease
AT choisunseob caseofgerstmannstrausslerscheinkerdisease
AT kimyongsun caseofgerstmannstrausslerscheinkerdisease
AT kimjaewoo caseofgerstmannstrausslerscheinkerdisease

Ejemplares similares