ArticleAJNR. American journal of neuroradiology2005
MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.
Article in AJNR. American journal of neuroradiology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.Neuroradiology · 2007Pooled it
- Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases.Journal of neurology · 2025Article
- Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype.medRxiv : the preprint server for health sciences · 2025Article
- Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.Journal of inherited metabolic disease · 2024Article
- Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.Annals of clinical and translational neurology · 2024Article
- Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.Neuroscience letters · 2021Article
- Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.Molecular genetics and metabolism · 2021Article
- Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know.Neurology. Clinical practice · 2021Review
- Genetics and Therapies for GM2 Gangliosidosis.Current gene therapy · 2018Review
- The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.Pediatric endocrinology reviews : PER · 2016Review
- Magnetic resonance imaging pattern recognition in hypomyelinating disorders.Brain : a journal of neurology · 2010Article
- Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis.Metabolic brain disease · 2008Article
- Pediatric neurodegenerative white matter processes: leukodystrophies and beyond.Pediatric radiology · 2008Review
- Serial 1H-MRS in GM2 gangliosidoses.European journal of pediatrics · 2008Article
- The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.Pediatrics · 2006Review
- Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II.AJNR. American journal of neuroradiologyArticle
- Natural history of Tay-Sachs disease in sheep.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
background and purposeDespite the ubiquity of G(M2) gangliosides accumulation in patients with late-onset G(M2) gangliosidosis (G(M2)G), 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.
methodsDuring a single imaging session, 9 patients with late-onset G(M2)G 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.
resultsThe patients' NAA levels in the thalamus (6.5 +/- 1.9 mmol/L) and NAWM (5.8 +/- 2.1 mmol/L) were approximately 40% lower than the controls' (P = .003 and P = .005), whereas the Cr and Cho reductions ( approximately 30% and approximately 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.
conclusionIn late-onset G(M2)G, 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.
Indexed as
Identifiers
16155156PMC8148816W2182129967What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.