The R208H substitution of the prion protein gene (PRNP) was first reported in 1996 in a subject with pathologically confirmed Creutzfeldt-Jakob disease (CJD) [1] and subsequently described in only five other patients [2–6]. Now we report a case with CJD and the rarely reported haplotype R208H-129VV, showing some distinctive clinical features and expanding the spectrum of phenotypes associated with R208H mutation.
R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease / Maria Gabriella Vita;Simona Gaudino;Daniela Giuda;Donato Sauchelli;Paolo Emilio Alboini;Emma Gangemi;Alessandra Bizzarro;Eugenia Scaricamazza;Sabina Capellari;Piero Parchi;Carlo Masullo. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - STAMPA. - 260:(2013), pp. 2650-2652. [10.1007/s00415-013-7078-9]
R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease
CAPELLARI, SABINA;PARCHI, PIERO;
2013
Abstract
The R208H substitution of the prion protein gene (PRNP) was first reported in 1996 in a subject with pathologically confirmed Creutzfeldt-Jakob disease (CJD) [1] and subsequently described in only five other patients [2–6]. Now we report a case with CJD and the rarely reported haplotype R208H-129VV, showing some distinctive clinical features and expanding the spectrum of phenotypes associated with R208H mutation.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
