ArticleEuropean journal of pediatrics2008
Serial 1H-MRS in GM2 gangliosidoses.
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis.Journal of inherited metabolic disease · 2026Article
- Infantile Sandhoff disease with ventricular septal defect: a case report.Journal of medical case reports · 2022Article
- 7T MRI Predicts Amelioration of Neurodegeneration in the Brain after AAV Gene Therapy.Molecular therapy. Methods & clinical development · 2020Article
- Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.Journal of veterinary internal medicine · 2018Article
- Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Review
- Vitamin k antagonist warfarin for palliative treatment of metachromatic leukodystrophy, a compassionate study of four subjects.Journal of central nervous system disease · 2012Article
- Neuroradiological findings in GM2 gangliosidosis variant B1.Journal of pediatric neurosciences · 2011Article
- Natural history of Tay-Sachs disease in sheep.Molecular genetics and metabolismArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. Clinically, the disease is marked by a relentless encephalopathy. Proton magnetic resonance spectroscopy (1H-MRS) provides in-vivo measurement of various brain metabolites including N-acetyl aspartate+N-acetyl aspartate glutamate (NAA), myo-inositol (mI), choline (Cho) and creatine (Cr). The NAA represents neuronal integrity while elevation in the mI reflects abnormal inflammation and gliosis in the brain tissue. An elevation in the Cho levels suggest cell membrane breakdown and demyelination. We report the clinical and laboratory data in two patients with GM2 gangliosidoses. Serial 1H-MRS evaluations were performed to drive metabolite ratios of NAA/Cr, mI/Cr and Cho/Cr. We acquired the data from four regions of interest (ROI) according to a standard protocol. The results documented a progressive elevation in mI/Cr in all four ROI in patient one and only one ROI (occipital gray matter) in patient 2. We also documented a decline in the NAA/Cr ratios in both cases in most ROI. These results were compared to six age-matched controls and confirmed statistically significant elevation in the mI in our cases. In conclusion, 1H-MRS alterations were suggestive of neuronal loss and inflammation in these patients. 1H-MRS may be a valuable tool in monitoring the disease progress and response to therapy in GM2 gangliosidoses. Elevation in the mI may prove to be more sensitive than the other metabolite alterations.
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