J Korean Neurol Assoc.
2019 Nov;37(4):384-387. 10.17340/jkna.2019.4.9.
Gerstmann-Sträussler-Scheinker Disease (Pro102Leu) Presenting as Rapidly Progressive Dementia
- Affiliations
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- 1Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea. nyjung@pusan.ac.kr
- 2Department of Neurology, Pusan National University School of Medicine, Yangsan, Korea.
- 3Ilsong Institute of Life Science, Hallym University, Anyang, Korea.
- KMID: 2464144
- DOI: http://doi.org/10.17340/jkna.2019.4.9
Abstract
- Genetic prion diseases account for about 10-15% of all cases of human prion disease and are caused by mutations in the prion protein gene. Gerstmann-Sträussler-Scheinker (GSS) disease is a rare genetic prion disease, which is characterized by slowly progressive cerebellar ataxia and the occurrence of cognitive decline in the later stage. P102L is the most common mutation in GSS. We report a patient with a P102L mutation that initially manifested as rapidly progressive dementia without cerebellar symptoms.
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