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A family with mental disorder as the first symptom finally confirmed with Gerstmann–Sträussler–Scheinker disease with P102L mutation in PRNP gene – case report
Gerstmann–Sträussler–Scheinker (GSS) disease is an autosomal dominant neurodegenerative disease, and it is characterized by progressive cerebellar ataxia. Up to now, GSS cases with the p.P102L mutation have mainly been reported in Caucasian, but rarely in Asian populations. A 54-year-old female pati...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Taylor & Francis
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980613/ https://www.ncbi.nlm.nih.gov/pubmed/36847171 http://dx.doi.org/10.1080/19336896.2023.2180255 |