Loss of <scp> <i>ANK3</i> </scp> Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia
Our findings support a recognizable NDD with non-progressive cerebellar ataxia linked to biallelic ANK3 pLOF variants. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Pooneh Nikuei
- Sajjad Biglari (ORCID: https://orcid.org/0000-0002-6688-3219)
- Maha Saad Zaki (ORCID: https://orcid.org/0000-0001-7840-0002)
- Giulia Spoto
- Felice D’Arco (ORCID: https://orcid.org/0000-0001-7396-591X)
- Asthik Biswas (ORCID: https://orcid.org/0000-0003-2010-9524)
- Dalila Moualek
- Henry Houlden (ORCID: https://orcid.org/0000-0002-2866-7777)
- Lamia Ali Pacha (ORCID: https://orcid.org/0009-0004-6732-0516)
- Reza Maroofian
- Joseph G. Gleeson
- Meriem Tazir
Institutions
- University of Messina (IT)
- Isfahan University of Medical Sciences (IR)
- Children’s Institute (US)
- University of San Diego (US)
- Queen Mary University of London (GB)
- University of Algiers Benyoucef Benkhedda (DZ)
- Great Ormond Street Hospital (GB)
- University of California San Diego (US)
- Armed Forces College of Medicine (EG)
- Hormozgan University of Medical Sciences (IR)
- National Research Centre (EG)
- National Hospital for Neurology and Neurosurgery (GB)
- Hôpital Mustapha Pacha (DZ)
- University College London (GB)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-08-04
- DOI
- https://doi.org/10.1002/mds.30324
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Michael J. Fox Foundation for Parkinson's Research
- Friedreich's Ataxia Research Alliance
- Wellcome Trust
- Parkinson's Foundation
- Multiple System Atrophy Coalition
- National Institute for Health and Care Research
- Parkinson's UK
- Guarantors of Brain
- University College London
- Rosetrees Trust
- European Academy of Neurology
- Cerebral Palsy Alliance
- National Institutes of Health
- Medical Research Council
- NIHR Sheffield Biomedical Research Centre