ArticleJournal of neurology2020
Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study.
Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis.BMC neurology · 2022Pooled it
- An update on the effects of cerebellar transcranial magnetic stimulation on cognitive function.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Distribution and functional significance of KLF15 in mouse cerebellum.Molecular brain · 2025Article
- Altered Intracerebellar Functional Connectivity in Friedreich's Ataxia: A Graph-Theory Functional MRI Study.Cerebellum (London, England) · 2025Article
- Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review.Frontiers in neurology · 2025Review
- Gray Matter Asymmetry Alterations in Patients With Spinocerebellar Ataxia Type 3: A Voxel-Based Morphometric Comparison Study.CNS neuroscience & therapeutics · 2024Article
- Gradient of microstructural damage along the dentato-thalamo-cortical tract in Friedreich ataxia.Annals of clinical and translational neurology · 2024Article
- 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
- Aging, Neurodegenerative Disorders, and Cerebellum.International journal of molecular sciences · 2024Review
- Morphological changes in the cerebellum during aging: evidence from convolutional neural networks and shape analysis.Frontiers in aging neuroscience · 2024Article
- Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia.Annals of clinical and translational neurology · 2023Article
- Cerebellar Structural Abnormality in Autism Spectrum Disorder: A Magnetic Resonance Imaging Study.Psychiatry investigation · 2023Article
- The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients.Journal of neurology · 2022Article
- Cerebellar Abnormalities on Proton MR Spectroscopy and Imaging in Patients With Gluten Ataxia: A Pilot Study.Frontiers in human neuroscience · 2022Article
- Cognitive Dysfunction in Repeat Expansion Diseases: A Review.Frontiers in aging neuroscience · 2022Review
- Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group.Annals of neurology · 2021Article
- Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.Neuronal signaling · 2021Review
- Neuroimaging Correlates of Cognitive Dysfunction in Adults with Multiple Sclerosis.Brain sciences · 2021Review
- Editorial: The Cerebellum: From Vascular Disease to Neurodegeneration.Frontiers in neurology · 2021Article
- Central Nervous System Therapeutic Targets in Friedreich Ataxia.Human gene therapy · 2020Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecent studies have suggested the presence of a significant atrophy affecting the cerebellar cortex in Friedreich ataxia (FRDA) patients, an area of the brain long considered to be relatively spared by neurodegenerative phenomena. Cognitive deficits, which occur in FRDA patients, have been associated with cerebellar volume loss in other conditions. The aim of this study was to investigate the correlation between cerebellar volume and cognition in FRDA.
methodsNineteen FRDA patients and 20 healthy controls (HC) were included in this study and evaluated via a neuropsychological examination. Cerebellar global and lobular volumes were computed using the Spatially Unbiased Infratentorial Toolbox (SUIT). Furthermore, a cerebellar voxel-based morphometry (VBM) analysis was also carried out. Correlations between MRI metrics and clinical data were tested via partial correlation analysis.
resultsFRDA patients showed a significant reduction of the total cerebellar volume (p = 0.004), significantly affecting the Lobule IX (p = 0.001). At the VBM analysis, we found a cluster of significant reduced GM density encompassing the entire lobule IX (p = 0.003). When correlations were probed, we found a direct correlation between Lobule IX volume and impaired visuo-spatial functions (r = 0.58, p = 0.02), with a similar correlation that was found between the same altered function and results obtained at the VBM (r = 0.52; p = 0.03).
conclusionsWith two different image analysis techniques, we confirmed the presence of cerebellar volume loss in FRDA, mainly affecting the posterior lobe. In particular, Lobule IX atrophy correlated with worse visuo-spatial abilities, further expanding our knowledge about the physiopathology of cognitive impairment in FRDA.
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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.