TY - JOUR T1 - MR Imaging and Proton Spectroscopy of Neuronal Injury in Late-Onset G<sub>M2</sub> Gangliosidosis JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 2037 LP - 2042 VL - 26 IS - 8 AU - Matilde Inglese AU - Annette O. Nusbaum AU - Gregory M. Pastores AU - John Gianutsos AU - Edwin H. Kolodny AU - Oded Gonen Y1 - 2005/09/01 UR - http://www.ajnr.org/content/26/8/2037.abstract N2 - BACKGROUND AND PURPOSE: Despite the ubiquity of GM2 gangliosides accumulation in patients with late-onset GM2 gangliosidosis (GM2G), the only clinical MR imaging–apparent brain abnormality is profound cerebellar atrophy. The goal of this study was to detect the presence and assess the extent of neuroaxonal injury in the normal-appearing gray and white matter (NAGM and NAWM) of these patients.METHODS: During a single imaging session, 9 patients with late-onset GM2G and 8 age-matched normal volunteers underwent the following protocol: (1) T1- and T2-weighted and fluid-attenuated inversion recovery MR images, as well as (2) multivoxel proton MR spectroscopy (1H-MR spectroscopy) to quantify the distribution of the n-acetylaspartate (NAA), creatine (Cr), and choline (Cho), were obtained.RESULTS: The patients’ NAA levels in the thalamus (6.5 ± 1.9 mmol/L) and NAWM (5.8 ± 2.1 mmol/L) were ∼40% lower than the controls’ (P = .003 and P = .005), whereas the Cr and Cho reductions (∼30% and ∼26%) did not reach significance (P values of .06–.1). All cerebellar metabolites, especially NAA and Cr, were much (30%–90%) lower in the patients, which reflects the atrophy.CONCLUSION: In late-onset GM2G, NAA decreases are detectable in NAGM and NAWM even absent morphologic (MR imaging) abnormalities. Because the accumulation of GM2 gangliosides can be reduced pharmacologically, 1H-MR spectroscopy might be a sensitive and specific for detecting and quantifying neuroaxonal injury and monitoring response to emerging treatments. ER -