ArticleAJNR. American journal of neuroradiology2007
Proton spectroscopy and imaging at 3T in ataxia-telangiectasia.
Article in AJNR. American journal of neuroradiology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- Biomarkers in Ataxia-Telangiectasia: a Systematic Review.Journal of neurology · 2025Pooled it
- Pooled it
- Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia.Cerebellum (London, England) · 2022Trial
- Personalized MRI-based characterization of subcortical anomalies in Ataxia-Telangiectasia using deep-learning.PloS one · 2025Article
- Nervous system (NS) Tumors in Cancer Predisposition Syndromes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
- A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation.eLife · 2021Article
- Ataxia telangiectasia: a review.Orphanet journal of rare diseases · 2016Review
- Consensus paper: radiological biomarkers of cerebellar diseases.Cerebellum (London, England) · 2015Article
- Imaging spectrum of cerebellar pathologies: a pictorial essay.Polish journal of radiology · 2015Review
- Vascular neurocutaneous disorders: neurospinal and craniofacial imaging findings.Japanese journal of radiology · 2014Review
- Radiological imaging in ataxia telangiectasia: a review.Cerebellum (London, England) · 2014Review
- Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.Brain : a journal of neurology · 2014Article
- Cerebral abnormalities in adults with ataxia-telangiectasia.AJNR. American journal of neuroradiology · 2014Article
- Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.Cerebellum (London, England) · 2013Review
- Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.Cerebellum (London, England) · 2010Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeAtaxia-telangiectasia (A-T) is an autosomal recessive disorder with characteristic neurodegeneration of the cerebellum. We used MR spectroscopy to test the hypothesis that cerebellar metabolism in A-T patients would be abnormal relative to healthy controls.
methodsTwelve adults with A-T and 12 healthy control subjects underwent MR imaging and long-echo time (1)H-MR spectroscopy at 3T. Voxels were acquired in the region of the dentate nucleus of the cerebellum and in parietooccipital white matter, and ratios for N-acetylaspartate (NAA), choline (Cho), and creatine (Cr) were calculated.
resultsAll of the A-T patients showed marked cerebellar atrophy of the vermis and hemispheres. Two patients showed multiple small foci of hypointensity on T2*-weighted images throughout their brain suggestive of capillary telangiectasia. A further 2 patients had single low-signal-intensity foci. One patient had a tumor, thought to be meningioma radiologically, that was not suspected clinically. No group differences were found in the cerebral spectra, but analysis of the cerebellum revealed significantly lower NAA/Cho and higher Cho/Cr ratios in the A-T patients compared with the controls. There was no difference between groups for the NAA/Cr ratio.
conclusionThe findings suggest increased Cho signal intensity in the cerebellum of adult A-T patients. If this finding is shown through the course of the disease, it may assist in the differentiation of early A-T from other forms of ataxia and provide a marker for monitoring treatment efficacy.
Indexed as
Identifiers
17213429PMC8134102W1909693001What 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.