{
  "abstract": "Silent proteopathic seed propagation is hypothesised to precede neurodegenerative disease, but direct evidence that it signals near-term clinical conversion in humans is lacking. In prion disease, a prototypic disorder of proteopathic seeding, cerebrospinal fluid (CSF) real-time quaking-induced conversion (RT-QuIC) offers a direct measure of prion protein amyloid seeding activity. We analysed longitudinal CSF RT-QuIC data from 94 PRNP E200K mutation carriers across international natural history cohorts to determine whether seeding status predicts clinical conversion. Eleven carriers developed inherited prion disease; all showed at least one positive RT-QuIC result before onset. First positivity appeared a median of 2.0 years prior to symptoms (IQR 1.3-3.3; range 0.2-4.8). Landmark analyses showed RT-QuIC positivity identified a markedly increased short-term conversion risk, whereas persistently asymptomatic carriers remained negative throughout follow-up. These findings establish CSF RT-QuIC positivity as a biomarker-defined state of incipient conversion in E200K carriers, informing risk stratification and preventive trial design.",
  "abstract_shown": true,
  "affiliations": [
    "MRC Prion Unit at UCL"
  ],
  "article_type": "PUBLISHAHEADOFPRINT",
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "name": "T. H. Mok"
    },
    {
      "name": "A. Nihat"
    },
    {
      "name": "S. M. Vallabh"
    },
    {
      "name": "B. Noa"
    },
    {
      "name": "N. Omer"
    },
    {
      "name": "M. Geschwind"
    },
    {
      "name": "S. E. Arnold"
    },
    {
      "name": "E. V. Minikel"
    },
    {
      "name": "J. Collinge"
    },
    {
      "affs": [
        0
      ],
      "name": "S. Mead"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/100z0x55m3247.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.11.03.26367164",
  "fulltext_url": "https://www.medrxiv.org/content/10.64898/2026.11.03.26367164v1.full",
  "id": "100z0x55m3247",
  "issns": [],
  "landing_url": "https://www.medrxiv.org/content/10.64898/2026.11.03.26367164v1",
  "language": null,
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "medrxiv",
      "neurology"
    ]
  ],
  "openalex": null,
  "pdf_url": "https://www.medrxiv.org/content/10.64898/2026.11.03.26367164v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-11-03",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/100z0x55m3247.ris",
  "sources": [
    {
      "first_seen": "2026-11-05T00:20:40Z",
      "native_id": "10.64898/2026.11.03.26367164",
      "source": "medrxiv",
      "url": "https://www.medrxiv.org/content/10.64898/2026.11.03.26367164v1"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "medrxiv:neurology",
      "subfield": "neurology"
    }
  ],
  "title": "CSF PrP-amyloid seeding predicts clinical onset in inherited prion disease",
  "title_text": "CSF PrP-amyloid seeding predicts clinical onset in inherited prion disease",
  "type": "preprint",
  "updated_at": "2026-11-06T00:20:55Z",
  "url": "https://research.draconitic.com/paper/100z0x55m3247",
  "venue": "medRxiv",
  "versions": []
}