Kharytaniuk, N;
Hikmat, D;
Ozkan, H;
Lim, EA;
Bamiou, DE;
Cowley, P;
Jäger, HR;
(2025)
Prevalence of infratentorial superficial siderosis in a large general population sample from the UK Biobank.
Journal of Neurology
, 272
(3)
, Article 242. 10.1007/s00415-025-12965-w.
Preview |
Text
Prevalence of infratentorial superficial siderosis in a large general population sample from the UK Biobank.pdf - Published Version Download (1MB) | Preview |
Abstract
Background: Classical infratentorial superficial siderosis (iSS) is considered a rare but potentially disabling neurological disorder. It results from slow chronic blood extravasation into the cerebrospinal fluid and deposition of the iron degradation product hemosiderin within the subpial layers of the central nervous system. Susceptibility-weighted (SW) magnetic resonance imaging (MRI) is the reference diagnostic modality. Few studies have described the population prevalence of cerebellar or infratentorial siderosis, and there are none from the UK population. The aim of this cross-sectional observational study was to estimate the prevalence of iSS in the UK Biobank sample using pre-defined radiological criteria. // Methods: We reviewed SW MRIs of participants from the UK Biobank, looking for the radiological features of classical iSS: involvement of infratentorial structures (superior vermis, cerebellar folia, brainstem, or craniocervical junction). We calculated the point prevalence as the number of identified cases per total number of cases reviewed and 95% confidence intervals (CI) using Wilson’s Score formula. // Results: Of 10,305 SW MRIs reviewed, five cases with radiological features of iSS were identified demonstrating cerebellar/superior vermis involvement. The estimated prevalence of iSS was calculated as 48.5 (95%CI 20.7–113.5) cases per 100,000 population. // Conclusions: This is the first study to estimate iSS prevalence in the UK population. The prevalence of iSS is higher than that reported for other rare neurological and neuro-otological disorders, suggesting an important unmet healthcare need for early diagnosis and targeted management strategies. Further studies are needed to determine the clinical associations and prognostic significance of radiologically defined iSS in the general population.
| Type: | Article |
|---|---|
| Title: | Prevalence of infratentorial superficial siderosis in a large general population sample from the UK Biobank |
| Location: | Germany |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1007/s00415-025-12965-w |
| Publisher version: | https://doi.org/10.1007/s00415-025-12965-w |
| Language: | English |
| Additional information: | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
| Keywords: | Superficial siderosis; Infratentorial; Prevalence; UK Biobank |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > The Ear Institute |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10216769 |
Archive Staff Only
 |
View Item |
