Toggle Main Menu Toggle Search

Open Access padlockePrints

The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME Dysplasia

Lookup NU author(s): Dr Rob ForsythORCiD, Dr Eleri Williams, Dr Michael Wright, Dr Karin EngelhardtORCiD, Dr Dipayan Mitra, Professor Sophie HambletonORCiD

Downloads

Licence

This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

Objective To raise awareness of a novel neuroinflammatory syndrome associated with TONSL DNA repair defects Methods Case review with neuroradiology, neuropathology, functional data and review of the literature. Results Tonsoku-like, DNA repair protein (TONSL) mutations have recently been described as the cause of SPONASTRIME dysplasia, a syndrome of skeletal dysplasia, disproportionate short stature and immunodeficiency. We describe a novel, striking chronic, relapsing-remitting CNS neuroinflammatory process as a previously unreported feature of the SPONSASTRIME phenotype in a patient with novel compound heterozygote TONSL mutations. Discussion This is the first report of a chronic, relapsing-remitting neuroinflammatory process associated with immuno-osseous dysplasia due to TONSL gene variants.

Publication metadata

Author(s): Forsyth R, Williams E, Cooke SL, Wright M, Engelhardt KR, Mitra D, Merve A, Joshi A, Stewart GS, Hambleton S

Publication type: Article

Publication status: Published

Journal: Wellcome Open Research

Year: 2025

Volume: 10

Pages: 311

Online publication date: 09/06/2025

Acceptance date: 09/06/2025

Date deposited: 19/06/2025

ISSN (electronic): 2398-502X

Publisher: Wellcome Trust

URL: https://doi.org/10.12688/wellcomeopenres.23663.1

DOI: 10.12688/wellcomeopenres.23663.1

Data Access Statement: Underlying data Newcastle University: Extended data for Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME dysplasia. https://doi.org/10.25405/data.ncl.286333587. This project contains the following underlying data: - Excel file containing raw data for the quantification of spontaneously stalled forks (Figure 4b), replication track length before and after exposure to camptothecin (CPT) (Figure 4c) and CPT-induced RAD51 foci (Figure 4d) in WT fibroblasts (WT1) and fibroblasts from the affected proband (patient). - Pdf file containing uncropped images of the Western blots used in Figure 4a and 4d

Notes: This paper is awaiting peer review

Altmetrics

Altmetrics provided by Altmetric

Share