| Autor: |
Minji Shin, Donghyun Kim, Young Jin Heo, Jin Wook Baek, Suyoung Yun, Hae Woong Jeong |
| Jazyk: |
English<br />Korean |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Journal of the Korean Society of Radiology, Vol 84, Iss 3, Pp 745-749 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2951-0805 |
| DOI: |
10.3348/jksr.2022.0089 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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