ReviewInternational journal of molecular sciences2020
Neuroimaging Biomarkers in SCA2 Gene Carriers.
Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Improving the Identification of the Preclinical Stages of Spinocerebellar Ataxia Type 2.Tomography (Ann Arbor, Mich.) · 2026Article
- MRI-based brain structural changes in adult-onset dentatorubral-pallidoluysian atrophy.Neuroradiology · 2025Article
- Deep Learning-Based Assessment of Brainstem Volume Changes in Spinocerebellar Ataxia Type 2 (SCA2): A Study on Patients and Preclinical Subjects.Sensors (Basel, Switzerland) · 2025Article
- The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA-Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia.Frontiers in neurology · 2025Article
- Peak width of skeletonized mean diffusivity: a novel biomarker for white matter damage in spinocerebellar ataxia type 2.Neuroradiology · 2025Article
- The Pattern and Staging of Brain Atrophy in Spinocerebellar Ataxia Type 2 (SCA2): MRI Volumetrics from ENIGMA-Ataxia.bioRxiv : the preprint server for biology · 2024Article
- On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients.Brain sciences · 2024Article
- Analysis and hierarchical clustering of infratentorial morphological MRI identifies SCAs phenogroups.Journal of neurology · 2023Article
- Clinical and neuroimaging review of triplet repeat diseases.Japanese journal of radiology · 2023Review
- In vivo microstructural white matter changes in early spinocerebellar ataxia 2.Acta neurologica Scandinavica · 2021Article
- The CNS-Penetrant Soluble Guanylate Cyclase Stimulator CY6463 Reveals its Therapeutic Potential in Neurodegenerative Diseases.Frontiers in pharmacology · 2021Article
- Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages.Frontiers in neurology · 2020Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A variety of Magnetic Resonance (MR) and nuclear medicine (NM) techniques have been used in symptomatic and presymptomatic SCA2 gene carriers to explore,in vivo, the physiopathological biomarkers of the neurological dysfunctions characterizing the associated progressive disease that presents with a cerebellar syndrome, or less frequently, with a levodopa-responsive parkinsonian syndrome. Morphometry performed on T1-weighted images and diffusion MR imaging enable structural and microstructural evaluation of the brain in presymptomatic and symptomatic SCA2 gene carriers, in whom they show the typical pattern of olivopontocerebellar atrophy observed at neuropathological examination. Proton MR spectroscopy reveals, in the pons and cerebellum of SCA2 gene carriers,a more pronounced degree of abnormal neurochemical profile compared to other spinocerebellar ataxias with decreased NAA/Cr and Cho/Cr, increased mi/Cr ratios, and decreased NAA and increased mI concentrations. These neurochemical abnormalities are detectable also in presymtomatic gene carriers. Resting state functional MRI (rsfMRI) demonstrates decreased functional connectivity within the cerebellum and of the cerebellum with fronto-parietal cortices and basal ganglia in symptomatic SCA2 subjects.
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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.