ArticleNeurosciences (Riyadh, Saudi Arabia)2017
A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.
Article in Neurosciences (Riyadh, Saudi Arabia), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Psychiatric presentation of Gerstmann-Sträussler-Scheinker disease with 9-OPRI mutation in PRNP gene: a case report.Journal of medical case reports · 2025Article
- Review
- Article
- Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.Frontiers in neurology · 2023Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- Differential Accumulation of Misfolded Prion Strains in Natural Hosts of Prion Diseases.Viruses · 2021Review
- Gerstmann-Sträussler-Scheinker disease: A case report.World journal of clinical cases · 2019Article
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4 authors.
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Abstract
Gerstmann-Straussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptoms in 3 generations of her family, and all died 4-6 years after onset. To detect causative mutations, we employed a gene analysis panel of hereditary diseases. This revealed a P102L mutation in the prion protein gene (PRNP) gene, which is commonly found in GSS featuring cerebellar ataxia. However, GSS is an uncommon cause of hereditary cerebellar ataxia that might be overlooked because many neurologists are unfamiliar with it. To avoid misdiagnosis in the patients with hereditary cerebellar ataxia, GSS should be taken into account if other causes are absent, especially in patients that have accompanying psychiatric symptoms and a short survival time.
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