Fetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia
This study demonstrates that fetal and perinatal brain MRI can detect early, consistent neurodevelopmental abnormalities in AP-4-HSP, reinforcing its classification as both a neurodevelopmental and neurodegenerative disorder. Integration of prenatal neuroimaging with molecular diagnostics could enable earlier recognition, family counseling, and access to emerging gene therapies. These findings support the incorporation of fetal brain MRI into diagnostic protocols for suspected neurogenetic conditions.
Authors
- Amy Tam (ORCID: https://orcid.org/0000-0003-2072-3436)
- Edward Yang (ORCID: https://orcid.org/0000-0002-9912-4163)
- Darius Ebrahimi‐Fakhari (ORCID: https://orcid.org/0000-0002-0026-4714)
- Gregor J. Kasprian (ORCID: https://orcid.org/0000-0003-3858-3347)
- Julian E. Alecu (ORCID: https://orcid.org/0000-0002-1420-9775)
- Alexandra Kelly (ORCID: https://orcid.org/0000-0002-5121-7686)
- Katerina Bernardi (ORCID: https://orcid.org/0009-0004-3387-7623)
- Vicente Quiroz (ORCID: https://orcid.org/0009-0005-9212-0943)
- Luca Schierbaum (ORCID: https://orcid.org/0009-0002-4884-9647)
- Junkang Rong (ORCID: https://orcid.org/0000-0002-2508-7611)
- Nicole Battaglia (ORCID: https://orcid.org/0009-0008-9751-4580)
Institutions
- Boston Children's Hospital (US)
- Harvard University (US)
- Medical University of Vienna (AT)
Publication Details
- Journal
- Annals of the Child Neurology Society
- Published
- 2025-09-03
- DOI
- https://doi.org/10.1002/cns3.70035
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Spastic Paraplegia Foundation
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke