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
    20 Citations
    Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)
    • 1
    Gerstmann‐Sträussler‐Scheinker Syndrome with Variable Phenotype in a New Kindred with PRNP‐P102L Mutation
    • 5
    High phenotypic variability in Gerstmann-Sträussler-Scheinker disease.
    • 5
    • PDF
    A Novel PRNP Y218N Mutation in Gerstmann-Sträussler-Scheinker Disease With Neurofibrillary Degeneration
    • 43
    • PDF
    Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome
    • 1
    Genetics in Degenerative Dementia: Current Status and Applicability
    • 13
    Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene
    • 4
    • PDF

    References

    SHOWING 1-10 OF 32 REFERENCES
    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
    Loss of progranulin function in frontotemporal lobar degeneration.
    • 106
    Phenotypic Variability of Gerstmann-Straussler-Scheinker Disease is Associated with Prion Protein Heterogeneity
    • 193
    • PDF