1. Variably protease-sensitive prionopathy with methionine homozygosity at codon 129 in the prion protein gene.
- Author
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Clemmensen FK, Areskeviciute A, Lund EL, and Roos P
- Subjects
- Female, Humans, Prion Proteins genetics, Prion Proteins metabolism, Methionine genetics, Methionine metabolism, Homozygote, Brain pathology, Racemethionine metabolism, Codon genetics, Codon metabolism, Peptide Hydrolases genetics, Peptide Hydrolases metabolism, Prions genetics, Prions metabolism, Prion Diseases genetics, Prion Diseases metabolism, Prion Diseases pathology, Dementia genetics, Creutzfeldt-Jakob Syndrome pathology
- 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., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2024
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