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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 26:2037-2042, September 2005
© 2005 American Society of Neuroradiology

BRAIN

MR Imaging and Proton Spectroscopy of Neuronal Injury in Late-Onset G_M2 Gangliosidosis

Matilde Inglese^a, Annette O. Nusbaum^a, Gregory M. Pastores^b, John Gianutsos^c, Edwin H. Kolodny^b and Oded Gonen^a

^a From the Departments of Radiology, New York University, New York, NY
^b Neurology, New York University, New York, NY
^c Rehabilitation Medicine, New York University, New York, NY

Address correspondence to Matilde Inglese, MD, Department of Radiology, New York University, 650 1st Avenue, 6th Floor, New York, NY 10016

BACKGROUND AND PURPOSE: Despite the ubiquity of G_M2 gangliosides accumulation in patients with late-onset G_M2 gangliosidosis (G_M2G), 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 G_M2G 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 G_M2G, NAA decreases are detectable in NAGM and NAWM even absent morphologic (MR imaging) abnormalities. Because the accumulation of G_M2 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.

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