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The first case of protease-sensitive prionopathy (PSPr) in The Netherlands: a patient with an unusual GSS-like clinical phenotype
  1. C Jansen1,
  2. M W Head2,
  3. W A van Gool3,
  4. F Baas4,
  5. H Yull2,
  6. J W Ironside2,
  7. A J M Rozemuller1,5
  1. 1Department of Pathology, Dutch Surveillance Centre for Prion Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands
  2. 2National Creutzfeldt-Jakob Disease Surveillance Unit, University of Edinburgh, Edinburgh, UK
  3. 3Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands
  4. 4Department of Neurogenetics, Academic Medical Centre, Amsterdam, The Netherlands
  5. 5Netherlands Brain Bank and Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands
  1. Correspondence to Dr C Jansen, Department of Pathology, Dutch Surveillance Centre for Prion Diseases, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands; c.jansen{at}


An atypical case of prion disease is described in a 54-year-old Dutch man, homozygous for valine at codon 129 of the prion protein gene (PRNP). The clinical phenotype was characterised by progressive dementia, spastic paraplegia and sensorimotor polyneuropathy. The disease duration was 20 months. Genetic analysis of PRNP did not reveal any abnormalities. Neuropathologically, only mild spongiform change and a coarse granular immunohistochemical staining for the abnormal prion protein, PrPSc, was observed, with poorly formed plaques in the molecular layer of the cerebellar cortex. However, Western blotting showed low but detectable levels of proteinase K(PK)-resistant PrPSc occurring in an unusual ladder-like profile. These features define a phenotype that corresponds to the recently described protease-sensitive prionopathy (PSPr). Our report on the first Dutch patient with PSPr further expands the spectrum of prionopathies and exemplifies the need to re-evaluate cases of atypical prion disease.

  • Creutzfeldt-Jakob
  • prion
  • PrP sensitive
  • GSS

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  • Funding Other Funders: Rijksinstituut voor Volksgezondheid en Milieu (RIVM), The Netherlands.

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.