Jean M. Johnston

Expanded Access use of Intravenous Gene Transfer with AAV9-GLB1 in a Juvenile GM1 Gangliosidosis Participant

This study reports 5-year safety and 3-year clinical outcomes of AAV9-GLB1 gene therapy in a juvenile GM1 gangliosidosis patient, showing sustained seizure freedom and biochemical improvements.

AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial

This phase 1/2 trial evaluates AAV9 gene therapy for GM1 gangliosidosis Type II, showing safety and some biochemical and neuroimaging improvements.

Tay-Sachs and Sandhoff Diseases: Diffusion tensor imaging and correlational fiber tractography findings differentiate late-onset GM2 Gangliosidosis

This study uses diffusion tensor imaging and correlational fiber tractography to show neurobiological differences between Tay-Sachs and Sandhoff diseases, with greater cerebellar pathology in Tay-Sachs patients.

A Case for Automated Segmentation of MRI Data in Milder Neurodegenerative Diseases

This study evaluates automated MRI segmentation pipelines in GM1 gangliosidosis patients and controls, finding some methods comparable to manual segmentation for specific brain structures.

Differential Tractography: A Biomarker for Neuronal Function in Neurodegenerative Disease

This study uses differential tractography to quantify white matter changes in GM1 patients and controls, showing degradation in patients and growth in controls, with correlations to clinical scores.

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

This study presents a 10-year prospective analysis of type II GM1 gangliosidosis, detailing disease progression and phenotypic features in 41 patients.