R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease

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Veröffentlicht in:	Journal of neurology 2013-10, Vol.260 (10), p.2650-2652
Hauptverfasser:	Vita, Maria Gabriella, Gaudino, Simona, Di Giuda, Daniela, Sauchelli, Donato, Alboini, Paolo Emilio, Gangemi, Emma, Bizzarro, Alessandra, Scaricamazza, Eugenia, Capellari, Sabina, Parchi, Piero, Masullo, Carlo
Format:	Artikel
Sprache:	eng
Schlagworte:	Akinesia Apathy Apraxia Arginine - genetics Ataxia Brain - diagnostic imaging Brain - pathology Creutzfeldt-Jakob disease Creutzfeldt-Jakob Syndrome - diagnosis Creutzfeldt-Jakob Syndrome - genetics Dementia Dysarthria Electroencephalography Female Genotype & phenotype Hallucinations Haplotypes Histidine - genetics Humans Letter to the Editors Medical imaging Medicine Medicine & Public Health Middle Aged Mutation Neuroimaging Neurology Neuroradiology Neurosciences Paresis Phenotype Prions - genetics Proteins Radiography Radionuclide Imaging
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