Brief Communication

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

  1. Mark W. Head PhD1,*,
  2. Gerrit Tissingh MD2,
  3. Bernard M. J. Uitdehaag MD, PhD2,
  4. Frederik Barkhof MD, PhD3,
  5. Tristan J. R. Bunn MSc1,
  6. James W. Ironside FRCP1,
  7. Wouter Kamphorst MD, PhD4,
  8. Philip Scheltens MD, PhD2

Article first published online: 3 JUL 2001

DOI: 10.1002/ana.1100

Issue

Annals of Neurology

Annals of Neurology

Volume 50, Issue 2, pages 258–261, August 2001

Additional Information

How to Cite

Head, M. W., Tissingh, G., Uitdehaag, B. M. J., Barkhof, F., Bunn, T. J. R., Ironside, J. W., Kamphorst, W. and Scheltens, P. (2001), Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: Atypical molecular phenotype. Ann Neurol., 50: 258–261. doi: 10.1002/ana.1100

Author Information

  1. 1

    National Creutzfeldt-Jakob Disease Surveillance Unit and Department of Pathology, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom

  2. 2

    Department of Neurology, Vrije Universiteit Medical Center, Amsterdam, the Netherlands

  3. 3

    Department of Radiology, Vrije Universiteit Medical Center, Amsterdam, the Netherlands

  4. 4

    Department of Pathology, Vrije Universiteit Medical Center, Amsterdam, the Netherlands

*National CJD Surveillance Unit, Western General Hospital, Edinburgh, EH4 2XU, United Kingdom

Publication History

  1. Issue published online: 30 JUL 2001
  2. Article first published online: 3 JUL 2001
  3. Manuscript Revised: 9 MAY 2001
  4. Manuscript Accepted: 9 MAY 2001
  5. Manuscript Received: 6 DEC 2000

Funded by

  • UK Department of Health
  • Scottish Executive fund
  • National CJD Surveillance Unit (NCJDSU)

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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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