Literature DB >> 11506411

Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: atypical molecular phenotype.

M W Head1, G Tissingh, B M Uitdehaag, F Barkhof, T J Bunn, J W Ironside, W Kamphorst, P Scheltens.   

Abstract

A case of sporadic Creutzfeldt-Jakob disease (sCJD) is described in a young Dutch protein prion gene (PRNP) codon 129 valine homozygote. Certain clinical and molecular features of this case overlap those of variant CJD. The case highlights possible difficulties in the differential diagnosis of vCJD and the more rare sCJD subtypes based on molecular features alone.

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Year:  2001        PMID： 11506411     DOI： 10.1002/ana.1100

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  6 in total

1.  Characterization of variant Creutzfeldt-Jakob disease prions in prion protein-humanized mice carrying distinct codon 129 genotypes.

Authors:  Atsuko Takeuchi; Atsushi Kobayashi; James W Ironside; Shirou Mohri; Tetsuyuki Kitamoto
Journal:  J Biol Chem       Date:  2013-06-21       Impact factor: 5.157

2.  Peripheral tissue involvement in sporadic, iatrogenic, and variant Creutzfeldt-Jakob disease: an immunohistochemical, quantitative, and biochemical study.

Authors:  Mark W Head; Diane Ritchie; Nadine Smith; Victoria McLoughlin; William Nailon; Sazia Samad; Stephen Masson; Matthew Bishop; Linda McCardle; James W Ironside
Journal:  Am J Pathol       Date:  2004-01       Impact factor: 4.307

3.  Detection and localization of PrPSc in the skeletal muscle of patients with variant, iatrogenic, and sporadic forms of Creutzfeldt-Jakob disease.

Authors:  Alexander H Peden; Diane L Ritchie; Mark W Head; James W Ironside
Journal:  Am J Pathol       Date:  2006-03       Impact factor: 4.307

4.  Detection of type 1 prion protein in variant Creutzfeldt-Jakob disease.

Authors:  Helen M Yull; Diane L Ritchie; Jan P M Langeveld; Fred G van Zijderveld; Moira E Bruce; James W Ironside; Mark W Head
Journal:  Am J Pathol       Date:  2006-01       Impact factor: 4.307

5.  Impact of the clinical context on the 14-3-3 test for the diagnosis of sporadic CJD.

Authors:  Natividad Cuadrado-Corrales; Adolfo Jiménez-Huete; Carmen Albo; Rafael Hortigüela; Luz Vega; Laura Cerrato; Maríajosé Sierra-Moros; Alberto Rábano; Jesús de Pedro-Cuesta; Miguel Calero
Journal:  BMC Neurol       Date:  2006-07-26       Impact factor: 2.474

6.  Different prion disease phenotypes result from inoculation of cattle with two temporally separated sources of sheep scrapie from Great Britain.

Authors:  Timm Konold; Yoon Hee Lee; Michael J Stack; Claire Horrocks; Robert B Green; Melanie Chaplin; Marion M Simmons; Steve A C Hawkins; Richard Lockey; John Spiropoulos; John W Wilesmith; Gerald A H Wells
Journal:  BMC Vet Res       Date:  2006-10-17       Impact factor: 2.741
  6 in total

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