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

J Neurol. 2013 Oct;260(10):2650-2. doi: 10.1007/s00415-013-7078-9. Epub 2013 Aug 25.

Authors

Maria Gabriella Vita¹, Simona Gaudino, Daniela Di Giuda, Donato Sauchelli, Paolo Emilio Alboini, Emma Gangemi, Alessandra Bizzarro, Eugenia Scaricamazza, Sabina Capellari, Piero Parchi, Carlo Masullo

Affiliation

¹ Dipartimento di Gerontologia, Neuroscienze ed Ortopedia, Istituto di Neurologia, Università Cattolica del Sacro Cuore, Policlinico A.Gemelli, Largo A. Gemelli 8, 00168, Rome, Italy.

PMID: 23979103
DOI: 10.1007/s00415-013-7078-9

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Arginine / genetics*
Brain / diagnostic imaging
Brain / pathology
Creutzfeldt-Jakob Syndrome / diagnosis*
Creutzfeldt-Jakob Syndrome / genetics*
Female
Haplotypes
Histidine / genetics*
Humans
Middle Aged
Neuroimaging
Phenotype
Prions / genetics*
Radiography
Radionuclide Imaging

Substances

Prions
Histidine
Arginine