Abstract #2001

Magnetic Resonance Imaging and Spectroscopy in Late-Onset GM2-Gangliosidosis

Olivia E Rowe¹, Rangaprakash Deshpande¹, Akila Weerasekera¹, Christopher Stephen^2,3, Robert L Barry^1,4, Florian Eichler^3,5, and Eva-Maria Ratai¹

¹Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, United States, ²Movement Disorders Division and Ataxia Center, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States, ³Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States, ⁴Harvard-Massachusetts Institute of Technology Health Sciences & Technology, Cambridge, MA, United States, ⁵Leukodystrophy Clinic, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States

Late-onset GM2-Gangliosidoses (LOGG) are rare lysosomal storage disorders with slowly progressing neurological symptoms that encompass late-onset Tay-Sachs disease (LOTS) and Sandhoff disease (LOSD). We performed sMRI-MRS to discern how cerebellar aberrations may relate to underlying metabolic abnormalities, and their relationships to clinical presentations. Results revealed that structural and metabolic differences between LOTS patients and controls were more prominent than the collective group of LOGG patients vs. controls. Significant clinical associations with imaging-markers also differed when LOTS patients were analyzed separately versus in conjunction with LOSD patients. While LOSD could not be accurately assessed, it appeared to be distinct from LOTS.

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