Gerstmann-Sträussler- Scheinker Disease: A Case Report
Gerstmann-Sträussler-Scheinker (GSS) disease is a rare hereditary prion disease which is clinically characterized by a progressive cerebellar ataxia followed by cognitive impairment. We report a rare case of GSS disease in a 39-year-old male patient who complained of a progressive gait disturbance...
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| Format: | Article |
| Language: | English |
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The Korean Society of Radiology
2023-05-01
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| Series: | Journal of the Korean Society of Radiology |
| Subjects: | |
| Online Access: | https://doi.org/10.3348/jksr.2022.0089 |
| _version_ | 1797816604199747584 |
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| author | Minji Shin Donghyun Kim Young Jin Heo Jin Wook Baek Suyoung Yun Hae Woong Jeong |
| author_facet | Minji Shin Donghyun Kim Young Jin Heo Jin Wook Baek Suyoung Yun Hae Woong Jeong |
| author_sort | Minji Shin |
| collection | DOAJ |
| description | Gerstmann-Sträussler-Scheinker (GSS) disease is a rare hereditary prion disease which is clinically
characterized by a progressive cerebellar ataxia followed by cognitive impairment. We report a rare
case of GSS disease in a 39-year-old male patient who complained of a progressive gait disturbance
followed by dysarthria with cognitive impairment, after five months from the onset of initial symptom.
His brain MRI scan revealed multifocal symmetric diffusion restricted lesions with T2/FLAIR hyperintensities
in bilateral cerebral cortices, basal ganglia, and thalami. His family members also manifested
similar symptoms in their 40–50s, suggesting the possibility of a genetic disease. Finally, he
was genetically diagnosed with GSS disease by real-time quaking-induced conversion and prion protein
(PRNP) gene sequencing test. |
| first_indexed | 2024-03-13T08:40:06Z |
| format | Article |
| id | doaj.art-726bb23b96b54988b9a62d8284a6480e |
| institution | Directory Open Access Journal |
| issn | 2951-0805 |
| language | English |
| last_indexed | 2024-03-13T08:40:06Z |
| publishDate | 2023-05-01 |
| publisher | The Korean Society of Radiology |
| record_format | Article |
| series | Journal of the Korean Society of Radiology |
| spelling | doaj.art-726bb23b96b54988b9a62d8284a6480e2023-05-30T14:12:07ZengThe Korean Society of RadiologyJournal of the Korean Society of Radiology2951-08052023-05-01843745749Gerstmann-Sträussler- Scheinker Disease: A Case ReportMinji ShinDonghyun KimYoung Jin HeoJin Wook BaekSuyoung YunHae Woong JeongGerstmann-Sträussler-Scheinker (GSS) disease is a rare hereditary prion disease which is clinically characterized by a progressive cerebellar ataxia followed by cognitive impairment. We report a rare case of GSS disease in a 39-year-old male patient who complained of a progressive gait disturbance followed by dysarthria with cognitive impairment, after five months from the onset of initial symptom. His brain MRI scan revealed multifocal symmetric diffusion restricted lesions with T2/FLAIR hyperintensities in bilateral cerebral cortices, basal ganglia, and thalami. His family members also manifested similar symptoms in their 40–50s, suggesting the possibility of a genetic disease. Finally, he was genetically diagnosed with GSS disease by real-time quaking-induced conversion and prion protein (PRNP) gene sequencing test.https://doi.org/10.3348/jksr.2022.0089prion diseasegerstmann-straussler-scheinker syndromeprion proteinmagnetic resonance imaging |
| spellingShingle | Minji Shin Donghyun Kim Young Jin Heo Jin Wook Baek Suyoung Yun Hae Woong Jeong Gerstmann-Sträussler- Scheinker Disease: A Case Report Journal of the Korean Society of Radiology prion disease gerstmann-straussler-scheinker syndrome prion protein magnetic resonance imaging |
| title | Gerstmann-Sträussler- Scheinker Disease: A Case Report |
| title_full | Gerstmann-Sträussler- Scheinker Disease: A Case Report |
| title_fullStr | Gerstmann-Sträussler- Scheinker Disease: A Case Report |
| title_full_unstemmed | Gerstmann-Sträussler- Scheinker Disease: A Case Report |
| title_short | Gerstmann-Sträussler- Scheinker Disease: A Case Report |
| title_sort | gerstmann straussler scheinker disease a case report |
| topic | prion disease gerstmann-straussler-scheinker syndrome prion protein magnetic resonance imaging |
| url | https://doi.org/10.3348/jksr.2022.0089 |
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