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} }
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)
- Medicine
- Journal of the Neurological Sciences
- 2018
- 1
Gerstmann–Sträussler–Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt–Jakob disease: a case report and review of the literature
- Psychology, Medicine
- Neurocase
- 2013
- 6
Clinical features of Chinese patients with Gerstmann–Sträussler–Scheinker identified by targeted next-generation sequencing
- Biology, Medicine
- Neurobiology of Aging
- 2017
- 6
Gerstmann‐Sträussler‐Scheinker Syndrome with Variable Phenotype in a New Kindred with PRNP‐P102L Mutation
- Biology, Medicine
- Brain pathology
- 2014
- 5
High phenotypic variability in Gerstmann-Sträussler-Scheinker disease.
- Medicine
- Arquivos de neuro-psiquiatria
- 2017
- 5
- PDF
A Novel PRNP Y218N Mutation in Gerstmann-Sträussler-Scheinker Disease With Neurofibrillary Degeneration
- Medicine, Biology
- Journal of neuropathology and experimental neurology
- 2010
- 43
- PDF
Clinical Variability in P102L Gerstmann–Sträussler–Scheinker Syndrome
- Biology, Medicine
- Annals of neurology
- 2019
- 1
Genetics in Degenerative Dementia: Current Status and Applicability
- Medicine, Psychology
- Alzheimer disease and associated disorders
- 2014
- 13
Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene
- Biology, Medicine
- Acta neuropathologica communications
- 2019
- 3
- PDF
References
SHOWING 1-10 OF 32 REFERENCES
Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana kindred (F198S).
- Medicine
- Journal of the International Neuropsychological Society : JINS
- 1997
- 18
Gerstmann‐Sträussler‐Scheinker disease II. Neurofibrillary tangles and plaques with PrP‐amyloid coexist in an affected family
- Psychology, Medicine
- Neurology
- 1989
- 164
A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype
- Biology, Medicine
- Neurology
- 2000
- 29
- Highly Influential
Gerstmann‐Sträussler‐Scheinker Disease and the Indiana Kindred
- Biology, Medicine
- Brain pathology
- 1995
- 141
Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia
- Biology, Medicine
- Acta Neuropathologica
- 2002
- 40
- Highly Influential
Gerstmann–Sträussler–Scheinker syndrome,fatal familial insomnia, and kuru: a review ofthese less common human transmissiblespongiform encephalopathies
- Medicine
- Journal of Clinical Neuroscience
- 2001
- 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)
- Biology, Medicine
- Neurology
- 1996
- 63
- Highly Influential
Loss of progranulin function in frontotemporal lobar degeneration.
- Medicine, Biology
- Trends in genetics : TIG
- 2008
- 106
Phenotypic Variability of Gerstmann-Straussler-Scheinker Disease is Associated with Prion Protein Heterogeneity
- Biology, Medicine
- Journal of neuropathology and experimental neurology
- 1998
- 193
- PDF