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.
Maria Gabriella Vita, Simona Gaudino, Daniela Giuda, Donato Sauchelli, Paolo Emilio Alboini, Emma Gangemi, et al. (2013). R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease. JOURNAL OF NEUROLOGY, 260, 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.
