ArticleBrain research2010
(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2.
Article in Brain research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Demographic reporting across a decade of neuroimaging: a systematic review.Brain imaging and behavior · 2022Pooled it
- Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich ataxia: evidence from HERMES-edited MR spectroscopy.NeuroImage. Clinical · 2026Article
- Reactive Bergmann glia play a central role in spinocerebellar ataxia inflammation via the JNK pathway.Journal of neuroinflammation · 2023Article
- Multiway sparse distance weighted discrimination.Journal of computational and graphical statistics : a joint publication of American Statistical Association, Institute of Mathematical Statistics, Interface Foundation of North America · 2023Article
- Spinal cord magnetic resonance imaging and spectroscopy detect early-stage alterations and disease progression in Friedreich ataxia.Brain communications · 2022Article
- Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.Neuronal signaling · 2021Review
- Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study.Human brain mapping · 2020Article
- Ultra-High Field Proton MR Spectroscopy in Early-Stage Amyotrophic Lateral Sclerosis.Neurochemical research · 2017Article
- Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.Cerebellum (London, England) · 2017Article
- Degenerative Ataxias: challenges in clinical research.Annals of clinical and translational neurology · 2017Review
- Quantitative in vivo neurochemical profiling in humans: where are we now?International journal of epidemiology · 2016Review
- Cerebellar neurochemical alterations in spinocerebellar ataxia type 14 appear to include glutathione deficiency.Journal of neurology · 2015Article
- Consensus paper: radiological biomarkers of cerebellar diseases.Cerebellum (London, England) · 2015Article
- Longitudinal 1H MRS of rat forebrain from infancy to adulthood reveals adolescence as a distinctive phase of neurometabolite development.NMR in biomedicine · 2013Article
- The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician.Journal of neurology, neurosurgery, and psychiatry · 2013Article
- Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.Cerebellum (London, England) · 2013Review
- Axial diffusivity is increased in the degenerating superior cerebellar peduncles of Friedreich's ataxia.Neuroradiology · 2011Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
BACKGROUND AND
aimFriedreich's ataxia (FRDA) and ataxia with oculomotor apraxia type 2 (AOA2) are the two most frequent forms of autosomal recessive cerebellar ataxias. However, brain metabolism in these disorders is poorly characterized and biomarkers of the disease progression are lacking. We aimed at assessing the neurochemical profile of the pons, the cerebellar hemisphere and the vermis in patients with FRDA and AOA2 to identify potential biomarkers of these diseases.
methodsShort-echo, single-voxel proton ((1)H) magnetic resonance spectroscopy data were acquired from 8 volunteers with FRDA, 9 volunteers with AOA2, and 38 control volunteers at 4T. Disease severity was assessed by the Friedreich's Ataxia Rating Scale (FARS).
resultsNeuronal loss/dysfunction was indicated in the cerebellar vermis and hemispheres in both diseases by lower total N-acetylaspartate levels than controls. The putative gliosis marker myo-inositol was higher than controls in the vermis and pons in AOA2 and in the vermis in FRDA. Total creatine, another potential gliosis marker, was higher in the cerebellar hemispheres in FRDA relative to controls. Higher glutamine in FRDA and lower glutamate in AOA2 than controls were observed in the vermis, indicating different mechanisms possibly leading to altered glutamatergic neurotransmission. In AOA2, total N-acetylaspartate levels in the cerebellum strongly correlated with the FARS score (p<0.01).
conclusionDistinct neurochemical patterns were observed in the two patient populations, warranting further studies with larger patient populations to determine if the alterations in metabolite levels observed here may be utilized to monitor disease progression and treatment.
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