Anna Poleggi

Key facts

• The ISS National CJD Registry staff list (revised 6 November 2024) names A Poleggi as senior scientist in molecular genetics, one of eight staff under the registry head, Anna Ladogana.
• The CJD Foundation profile describes her as a permanent research scientist in the ISS Department of Neuroscience, unit for clinical studies, diagnosis and therapy of degenerative CNS diseases, in charge of the molecular surveillance of the Italian CJD Registry and working on prion diseases since 2000.
• She is first author of a December 2018 JNNP paper with ISS, Bologna and Erasmus MC co-authors reporting that two variants at the CYP4X1 locus are linked to age at onset in E200K genetic CJD, found in Italian cluster patients and healthy carriers and checked in further E200K and sporadic cases from the Italian registry; the work was funded by the Ministry of Health surveillance grant.
• In 2020 the CJD Foundation funded her project on the influence of the CYP4X1 gene on age at onset of CJD as a possible preventive target; a linked final report covers January 2020 to May 2021 and no amount is published.
• She is first author of the 2022 Frontiers in Aging Neuroscience review with Baiardi, Ladogana and Parchi on RT-QuIC for human prion disease, covering CSF, olfactory mucosa and skin and results by PRNP mutation.
• She is last author of a 2025 scoping review of 49 studies on RT-QuIC and PMCA in easily reached samples (mostly skin and olfactory mucosa, with early data for blood, saliva and tears) across prion disease and other protein misfolding disorders, and of a 2026 ISS funded study of tear fluid seeding tests in Parkinson disease.
• She is a co-author of the 2023 JNNP 10 year Italian study of 1,250 suspected cases at two reference centres, which put CSF RT-QuIC sensitivity at about 94 percent, and of the 2022 ring trial in which 13 laboratories of the European surveillance network tested the same CSF samples blind.
• She co-authors the recent registry outputs: the September 2025 J Neurol report of a novel PRNP A118V variant, the August 2026 J Neurol cohort of 599 sporadic CJD cases on sex differences and the September 2026 study of rapidly progressive dementia with parkinsonism.
• Europe PMC lists 56 records under her name from 2003 to 2026, including large international genetic studies of CJD risk and penetrance such as the 2020 Lancet Neurology sporadic CJD genome wide study led by the London prion unit group and the 2016 penetrance study led from Boston; her exact contribution to these is not stated in the index.

Timeline

1. 2000Starts work on transmissible spongiform encephalopathies, according to her CJD Foundation profile.
2. 2018CYP4X1 age at onset paper published online in JNNP with her as first author (print December 2018).
3. 2020Start of her CJD Foundation funded CYP4X1 follow up project, reported as running to May 2021.
4. 2022Frontiers in Aging Neuroscience review on RT-QuIC for human prion disease with her as first author; same month, European RT-QuIC concordance ring trial published with her as co-author.
5. 2024Listed as senior scientist in molecular genetics on the revised ISS registry staff list.
6. 2025Co-author of the J Neurol report of the novel PRNP A118V variant.
7. 2026Co-author of the Italian registry cohort of 599 sporadic CJD cases on sex differences in progression.