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PT  - JOURNAL ARTICLE
AU  - Inglese, Matilde
AU  - Nusbaum, Annette O.
AU  - Pastores, Gregory M.
AU  - Gianutsos, John
AU  - Kolodny, Edwin H.
AU  - Gonen, Oded
TI  - MR Imaging and Proton Spectroscopy of Neuronal Injury in Late-Onset G&lt;sub&gt;M2&lt;/sub&gt; Gangliosidosis
DP  - 2005 Sep 01
TA  - American Journal of Neuroradiology
PG  - 2037--2042
VI  - 26
IP  - 8
4099  - http://www.ajnr.org/content/26/8/2037.short
4100  - http://www.ajnr.org/content/26/8/2037.full
SO  - Am. J. Neuroradiol.2005 Sep 01; 26
AB  - 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.