The first case of protease-sensitive prionopathy (PSPr) in The Netherlands: a patient with an unusual GSS-like clinical phenotype

C. Jansen, M. W. Head, W. A. van Gool, F. Baas, H. Yull, J. W. Ironside, A. J. M. Rozemuller

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1052-1055
Number of pages4
JournalJournal of Neurology, Neurosurgery & Psychiatry
Volume81
Issue number9
DOIs
Publication statusPublished - Sep 2010

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