Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family

@article{Giovagnoli2008AtypicalFD,
  title={Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family},
  author={A. Giovagnoli and G. D. Fede and Anna Aresi and F. Reati and G. Rossi and F. Tagliavini},
  journal={Neurological Sciences},
  year={2008},
  volume={29},
  pages={405-410}
}
  • A. Giovagnoli, G. D. Fede, +3 authors F. Tagliavini
  • Published 2008
  • Medicine
  • Neurological Sciences
    • Objective To describe a new dementia phenotype of Gerstmann-Straussler-Scheinker disease (GSS) in a previously unreported Italian family. Design Longitudinal clinical and neuropsychological assessment, combined with magnetic resonance imaging (MRI), single positron emission tomography (SPECT) and molecular genetic studies. Setting Neuropsychology Laboratory, and Division of Neuropathology and Neurology, “C. Besta” National Neurological Institute. Patients and participants Three members of the… CONTINUE READING
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    20 Citations
    Background Citations
    6
    Results Citations
    1
    20 Citations
    Citation Type

    Citation Type

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    Clinical features of Chinese patients with Gerstmann–Sträussler–Scheinker identified by targeted next-generation sequencing
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    Gerstmann‐Sträussler‐Scheinker Syndrome with Variable Phenotype in a New Kindred with PRNP‐P102L Mutation
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    A Novel PRNP Y218N Mutation in Gerstmann-Sträussler-Scheinker Disease With Neurofibrillary Degeneration
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    Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome
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    Genetics in Degenerative Dementia: Current Status and Applicability
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    Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene
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    An autopsy report of three kindred in a Gerstmann–Sträussler–Scheinker disease P105L family with a special reference to prion protein, tau, and beta‐amyloid
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    References

    SHOWING 1-10 OF 32 REFERENCES
    Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana kindred (F198S).
    • 18
    Gerstmann‐Sträussler‐Scheinker disease II. Neurofibrillary tangles and plaques with PrP‐amyloid coexist in an affected family
    • 164
    A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype
    • 29
    • Highly Influential
    Gerstmann‐Sträussler‐Scheinker Disease and the Indiana Kindred
    • 141
    Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia
    • 40
    • Highly Influential
    Gerstmann–Sträussler–Scheinker syndrome,fatal familial insomnia, and kuru: a review ofthese less common human transmissiblespongiform encephalopathies
    • 124
    Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Scheinker disease (PrP-P102L mutation)
    • 63
    • Highly Influential
    Mutations of the prion protein gene phenotypic spectrum.
    • 160
    Loss of progranulin function in frontotemporal lobar degeneration.
    • 106
    Phenotypic Variability of Gerstmann-Straussler-Scheinker Disease is Associated with Prion Protein Heterogeneity
    • 193
    • PDF