<scp>IRF2BPL</scp>‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (<scp>NEDAMSS</scp>) Is Characterized by Pathology Consistent with <scp>DRPLA</scp>
We provide the first detailed pathological description for IRF2BPL-related disorder, termed NEDAMSS (neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures; Mendelian Inheritance in Man, 618088) and evidence for the inclusion of this condition in the differential diagnosis of spastic-ataxic neurodegenerative conditions, reminiscent of DRPLA. Although the individuals with NEDAMSS do not carry an expansion, the polyQ repeat tract may play a role in the pathological inclusions that would represent a novel disease mechanism for polyQ repeats. © 2024 International Parkinson and Movement Disorder Society.
Authors
- Jean Michaud (ORCID: https://orcid.org/0000-0003-3883-4484)
- Kristin D. Kernohan (ORCID: https://orcid.org/0009-0006-8265-2820)
- David A. Dyment (ORCID: https://orcid.org/0000-0001-9085-3602)
- Benjamin Ellezam (ORCID: https://orcid.org/0000-0002-8716-7924)
- Yoko Itō (ORCID: https://orcid.org/0000-0003-4578-6126)
- Evan Lewis (ORCID: https://orcid.org/0000-0001-9024-150X)
- Michael T. Geraghty (ORCID: https://orcid.org/0000-0002-3068-8577)
- S. Venkateswaran (ORCID: https://orcid.org/0000-0002-7000-6710)
- Kym M. Boycott
Institutions
- Western University (CA)
- University of Ottawa (CA)
- University of Toronto (CA)
- Children's Hospital of Eastern Ontario (CA)
- London Health Sciences Centre (CA)
- Newborn Screening Ontario (CA)
- Université de Montréal (CA)
Publication Details
- Journal
- Movement Disorders
- Published
- 2024-09-03
- DOI
- https://doi.org/10.1002/mds.29938
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.55