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Literature DB >> 20386644

A case of gerstmann-sträussler-scheinker disease.

Min Jeong Park¹, Hee Young Jo, Sang-Myung Cheon, Sun Seob Choi, Yong-Sun Kim, Jae Woo Kim.

Abstract

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.

Entities: CellLine Chemical Disease Gene Mutation Species

Keywords: Gerstmann-Sträussler-Scheinker disease; diffusion-weighted imaging; transmissible spongiform encephalopathy

Year: 2010 PMID： 20386644 PMCID： PMC2851297 DOI： 10.3988/jcn.2010.6.1.46

Source DB: PubMed Journal: J Clin Neurol ISSN： 1738-6586 Impact factor: 3.077

13 in total

1. Genetic prion disease: the EUROCJD experience.

Authors: Gábor G Kovács; Maria Puopolo; Anna Ladogana; Maurizio Pocchiari; Herbert Budka; Cornelia van Duijn; Steven J Collins; Alison Boyd; Antonio Giulivi; Mike Coulthart; Nicole Delasnerie-Laupretre; Jean Philippe Brandel; Inga Zerr; Hans A Kretzschmar; Jesus de Pedro-Cuesta; Miguel Calero-Lara; Markus Glatzel; Adriano Aguzzi; Matthew Bishop; Richard Knight; Girma Belay; Robert Will; Eva Mitrova
Journal: Hum Genet Date: 2005-11-15 Impact factor: 4.132

2. Correlation of diffusion-weighted magnetic resonance imaging with neuropathology in Creutzfeldt-Jakob disease.

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Authors: H Arata; H Takashima; R Hirano; H Tomimitsu; K Machigashira; K Izumi; M Kikuno; A R Ng; F Umehara; T Arisato; R Ohkubo; Y Nakabeppu; M Nakajo; M Osame; K Arimura
Journal: Neurology Date: 2006-06-13 Impact factor: 9.910

4. [Patient with Gerstmann-Striussler-Scheinker syndrome (GSS P102L) presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI].

Authors: Misumi Misumi; Yasuto Nishida; Shukuro Araki
Journal: Rinsho Shinkeigaku Date: 2006-04

5. Detection of 14-3-3 protein in the cerebrospinal fluid supports the diagnosis of Creutzfeldt-Jakob disease.

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Journal: Ann Neurol Date: 1998-01 Impact factor: 10.422

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Authors: K Hsiao; H F Baker; T J Crow; M Poulter; F Owen; J D Terwilliger; D Westaway; J Ott; S B Prusiner
Journal: Nature Date: 1989-03-23 Impact factor: 49.962

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Authors: Steven J Collins; Victoria A Lawson; Colin L Masters
Journal: Lancet Date: 2004-01-03 Impact factor: 79.321

8. A case of Gerstmann-Sträussler-Scheinker syndrome.

Authors: Momoko Irisawa; Makoto Amanuma; Eito Kozawa; Fumiko Kimura; Nobuo Araki
Journal: Magn Reson Med Sci Date: 2007 Impact factor: 2.471

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Authors: Y Shiga; K Miyazawa; S Sato; R Fukushima; S Shibuya; Y Sato; H Konno; K Doh-ura; S Mugikura; H Tamura; S Higano; S Takahashi; Y Itoyama
Journal: Neurology Date: 2004-08-10 Impact factor: 9.910

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Journal: Arch Neurol Date: 1996-02

6 in total

1. Quantitative, functional MRI and neurophysiological markers in a case of Gerstmann-Sträussler-Scheinker syndrome.

Authors: Silvia Marino; Rosa Morabito; S De Salvo; L Bonanno; A Bramanti; P Pollicino; R Giorgianni; Placido Bramanti
Journal: Funct Neurol Date: 2017 Jul/Sep

2. First familial cases of P102L Gerstmann-Sträussler-Scheinker syndrome in South Korea: diffusion-weighted imaging might reflect intrafamilial phenotypic variability.

Authors: Seon-Jae Ahn; Han Sang Lee; Jangsup Moon; Kon Chu
Journal: Neurol Sci Date: 2022-02-07 Impact factor: 3.830