The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype
The clinicopathologic phenotype of sCJDMM/MV2C diverges from that of typical sCJDMM/MV1. Moreover, the histomolecular heterogeneity within MM/MV2C influences clinical features and results of diagnostic investigations, challenging its identification in vivo. Nonetheless, results suggest that DW-MRI and CSF RT-QuIC allow an accurate clinical diagnosis of Creutzfeldt-Jakob disease in most patients. ANN NEUROL 2026;99:883-896.
Authors
- Diane Ritchie (ORCID: https://orcid.org/0000-0002-3614-9638)
- Giuseppe Mario Bentivenga
- Piero Parchi (ORCID: https://orcid.org/0000-0002-9444-9524)
- Marcelo A. Barria (ORCID: https://orcid.org/0000-0003-4789-7401)
- Benedetta Carlà
- Otto Windl
- M. Cohen
- Jochen Herms (ORCID: https://orcid.org/0000-0002-6201-1042)
- Brian S. Appleby (ORCID: https://orcid.org/0000-0003-2275-3292)
- Ignazio Calì (ORCID: https://orcid.org/0000-0001-5770-3848)
- Simone Baiardi
- Claudia Marina Vargiu
- Anna Ladogana
- Armin Giese
- Angela Mammana
- Sabina Capellari
- Aino‐Minerva Kortelainen
Institutions
- Istituto Superiore di Sanità (IT)
- University Hospitals of Cleveland (US)
- Munich Cluster for Systems Neurology (DE)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Case Western Reserve University (US)
- Ludwig-Maximilians-Universität München (DE)
- University of Bologna (IT)
- University of Edinburgh (GB)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2025-12-22
- DOI
- https://doi.org/10.1002/ana.78117
- Primary Topic
- Prion Diseases and Protein Misfolding
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Department of Health and Social Care
- Ministero della Salute
- Istituto Superiore di Sanità
- National Institutes of Health
- Centers for Disease Control and Prevention
- Medical Research Council