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Neurology
Variably protease-sensitive prionopathy with methionine homozygosity at codon 129 in the prion protein gene
  1. Frederikke Kragh Clemmensen1,
  2. Ausrine Areskeviciute2,
  3. Eva Løbner Lund2 and
  4. Peter Roos1
  1. 1Danish Dementia Research Centre, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
  2. 2Danish Reference Centre for Prion Disease, Department of Pathology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
  1. Correspondence to Frederikke Kragh Clemmensen; frederikke.kragh.clemmensen{at}regionh.dk

Abstract

Variably protease-sensitive prionopathy (VPSPr) is a recently characterised rare subtype of sporadic prion disease, mainly affecting individuals with valine homozygosity at codon 129 in the prion protein gene, with only seven methionine homozygote cases reported to date. This case presents clinical, neuropathological and biochemical features of the eighth VPSPr case worldwide with methionine homozygosity at codon 129 and compares the features with the formerly presented cases.

The patient, a woman in her 70s, presented with cognitive decline, impaired balance and frequent falls. Medical history and clinical presentation were suggestive of a rapidly progressive dementia disorder. MRI showed bilateral thalamic hyperintensity. Cerebrospinal fluid real-time quaking-induced conversion was negative, and the electroencephalogram was unremarkable. The diagnosis was established through post-mortem pathological examinations. VPSPr should be suspected in rapidly progressive dementia lacking typical features or paraclinical results of protein misfolding diseases.

  • Memory Disorders
  • Variant Creutzfeld-Jakob Disease
  • Pathology

https://doi.org/10.1136/bcr-2023-258199

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    Footnotes

    • Contributors FKC, PR, ELL and AA were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content. FKC, PR, ELL and AA gave final approval of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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