Diffusion tensor imaging quantification of brain matter tracts in gene therapy treated GM1 gangliosidosis patients
Motivation: Type II GM1 gangliosidosis is a rare disease that lacks reliable quantitative biomarkers to assess neuronal health. Goal(s): We sought to quantify diffusion tensor imaging (DTI) parameters of different brain regions known to be affected in GM1 to track neuronal changes especially with the advent of gene therapy in treating GM1. Approach: We quantified fractional anisotropy and radial diffusivity changes at different timepoints using DTI-MRI to evaluate myelination changes in GM1 patients treated with gene therapy and compared them to untreated patients and healthy controls. Results: DTI can be used to demonstrate efficacy of gene therapy in monitoring disease progression/regression in GM1 patients. Impact: This study addressed the need for reliable biomarkers in assessing neuronal health in type II GM1 gangliosidosis. Using DTI parameters, we demonstrated the efficacy of gene therapy in reliably monitoring myelination changes in GM1 patients.
Authors
- Maria Acosta
- Srinivasan Vedantham (ORCID: https://orcid.org/0000-0003-4123-8392)
- Mohammed Salman Shazeeb (ORCID: https://orcid.org/0000-0002-3175-8098)
- Precilla D’Souza (ORCID: https://orcid.org/0000-0002-8468-5822)
- Jean M. Johnston
- Cynthia J. Tifft (ORCID: https://orcid.org/0000-0002-3931-1207)
- Catherine A. Lebel (ORCID: https://orcid.org/0000-0002-0344-4032)
- Behroze Vachha (ORCID: https://orcid.org/0000-0001-7462-1422)
- Anna Luisa Kühn (ORCID: https://orcid.org/0000-0001-9512-9461)
- Clifford Lindsay (ORCID: https://orcid.org/0000-0003-3249-2807)
- Heather Gray‐Edwards (ORCID: https://orcid.org/0000-0002-7856-3159)
- Ahmet Peker (ORCID: https://orcid.org/0000-0002-4913-6860)
- Zeynep Vardar (ORCID: https://orcid.org/0000-0002-7510-9524)
Publication Details
- Journal
- Proceedings on CD-ROM - International Society for Magnetic Resonance in Medicine. Scientific Meeting and Exhibition/Proceedings of the International Society for Magnetic Resonance in Medicine, Scientific Meeting and Exhibition
- Published
- 2024-11-26
- DOI
- https://doi.org/10.58530/2024/2553
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00