Gaur, Pritika;
Alves, Cesar;
Yildiz, Harun;
Mankad, Kshitij;
Sudhakar, Sniya;
Rahman, Shamima;
Biswas, Asthik;
(2025)
Imaging patterns of paediatric CNS mitochondrial disorders.
Neuroradiology
10.1007/s00234-025-03805-9.
(In press).
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Abstract
This review seeks to provide neuroradiologists and clinicians with an imaging-based pattern recognition framework for primary mitochondrial disorders affecting the central nervous system (CNS). By utilising a comprehensive imaging phenotype approach to CNS mitochondrial disorders, it highlights the wide spectrum of neuroimaging patterns and the complexities they present in clinical settings. Using illustrative case examples, the review demonstrates how imaging acts as a vital bridge between clinical phenotypes and genotypes.
| Type: | Article |
|---|---|
| Title: | Imaging patterns of paediatric CNS mitochondrial disorders |
| Location: | Germany |
| DOI: | 10.1007/s00234-025-03805-9 |
| Publisher version: | https://doi.org/10.1007/s00234-025-03805-9 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Mitochondrial disorders; Paediatric; Brain; Spine |
| 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 Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10217252 |
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