Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene

S. Capellari, F. Cardone, S. Notari, M. E. Schininà, B. Maras, D. Sità, A. Baruzzi, M. Pocchiari, P. Parchi

Research output: Contribution to journalArticle

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Abstract

The authors investigated a patient who died of apparent sporadic Creutzfeldt-Jakob disease (CJD) but carried a R208H substitution in the prion protein (PrP). The patient phenotype was indistinguishable from typical sporadic CJD (i.e., MM1 subtype). In addition, pathologic PrP, PrPSc, originated from both the normal and the mutated PRNP allele and had the same characteristics as PrPSc type 1. The authors propose that the R208H mutation influences disease susceptibility without significantly affecting PrPSc properties or disease phenotype.

Original languageEnglish
Pages (from-to)905-907
Number of pages3
JournalNeurology
Volume64
Issue number5
Publication statusPublished - Mar 8 2005

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Creutzfeldt-Jakob Syndrome
Phenotype
Mutation
Disease Susceptibility
Genes
Alleles
Prion Proteins
Sporadic Creutzfeldt-Jakob Disease

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Capellari, S., Cardone, F., Notari, S., Schininà, M. E., Maras, B., Sità, D., ... Parchi, P. (2005). Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. Neurology, 64(5), 905-907.

Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. / Capellari, S.; Cardone, F.; Notari, S.; Schininà, M. E.; Maras, B.; Sità, D.; Baruzzi, A.; Pocchiari, M.; Parchi, P.

In: Neurology, Vol. 64, No. 5, 08.03.2005, p. 905-907.

Research output: Contribution to journalArticle

Capellari, S, Cardone, F, Notari, S, Schininà, ME, Maras, B, Sità, D, Baruzzi, A, Pocchiari, M & Parchi, P 2005, 'Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene', Neurology, vol. 64, no. 5, pp. 905-907.
Capellari S, Cardone F, Notari S, Schininà ME, Maras B, Sità D et al. Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. Neurology. 2005 Mar 8;64(5):905-907.
Capellari, S. ; Cardone, F. ; Notari, S. ; Schininà, M. E. ; Maras, B. ; Sità, D. ; Baruzzi, A. ; Pocchiari, M. ; Parchi, P. / Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. In: Neurology. 2005 ; Vol. 64, No. 5. pp. 905-907.
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AU - Maras, B.

AU - Sità, D.

AU - Baruzzi, A.

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