ArticleBrain pathology (Zurich, Switzerland)2014
Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation.
Article in Brain pathology (Zurich, Switzerland), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 21 citations in OpenAlex.
- Advancements in dementia research, diagnostics, and care in Latin America: Highlights from the 2023 Alzheimer's Association International conference satellite symposium in Mexico City.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- Accumulation Area of a JapaneseJournal of clinical neurology (Seoul, Korea) · 2024Article
- Article
- Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.Frontiers in neurology · 2023Article
- Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.Alzheimer's research & therapy · 2022Review
- Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.Frontiers in aging neuroscience · 2022Article
- Review
- Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS.PLoS pathogens · 2015Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a dominantly inherited disorder belonging to the group of transmissible human spongiform encephalopathies or prion diseases. Several families affected by GSS with patients carrying mutations in the prion protein gene have been described worldwide. We report clinical, genealogical, neuropathology and molecular study results from two members of the first Argentine kindred affected by GSS. Both family members presented a frontotemporal-like syndrome, one with and the other without ataxia, with different lesions on neuropathology. A Pro to Leu point mutation at codon 102 (P102L) of the prion protein gene was detected in one of the subjects studied. The pathogenic basis of phenotypic variability observed in this family remains unclear, but resembles that observed in other P102L GSS patients from the same family.
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