ArticleAnnals of clinical and translational neurology2018
Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2.
Article in Annals of clinical and translational neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.Cerebellum (London, England) · 2025Pooled it
- MRI end-points for clinical trials in ataxias: recommendations from the Ataxia Global Initiative MRI Biomarkers Working Group.Nature reviews. Neurology · 2026Review
- Improving the Identification of the Preclinical Stages of Spinocerebellar Ataxia Type 2.Tomography (Ann Arbor, Mich.) · 2026Article
- Article
- Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.International journal of molecular sciences · 2026Review
- Predicting disease progression in progressive cerebellar ataxias: integrating clinical, imaging, fluid, genetic, and digital biomarkers.Frontiers in neurology · 2026Review
- Regional brain atrophy subtypes in spinocerebellar ataxia type 3: links to clinical performance and treatment response.Journal of neurology · 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
- Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes.Animal models and experimental medicine · 2025Article
- The Two Faces of Pediatric SCA2.European journal of neurology · 2025Article
- Distinct patterns of cerebral and spinal pathology along the spectrum of ATXN2-related disorders.Journal of neurology · 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
- Morphometric Analysis of Neocortical and Infratentorial Structures: Genetic and Environmental Insights from a Twin Neuroanatomical Study.Medicina (Kaunas, Lithuania) · 2025Article
- Peak width of skeletonized mean diffusivity: a novel biomarker for white matter damage in spinocerebellar ataxia type 2.Neuroradiology · 2025Article
- Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype.Cerebellum (London, England) · 2024Article
- 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
- Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers.Neurology · 2024Observational
- Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2.La Radiologia medica · 2024Article
- Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.Cerebellum (London, England) · 2024Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban-German research collaboration, we aimed to characterize atrophy patterns and associations with clinical measures in preclinical and manifest SCA2. Methods: In this study, 16 nonmanifest SCA2 mutation carriers, 26 manifest patients with SCA2, and 18 healthy control subjects underwent magnetic resonance imaging, as well as genetic and clinical characterization including assessment of ataxia (Scale for the Assessment and Rating of Ataxia) and saccade velocity in Cuba were enrolled. Semiautomated quantitative volumetry of the cerebellum and brainstem, subdivided into the medulla oblongata, the pontine brainstem, and mesencephalon was performed. Additionally, the anteroposterior diameter of the pontine brainstem was measured. Results: Analysis of volumetric data revealed degeneration of the cerebellum and brainstem, in particular of pontine volumes and the anteroposterior diameter of the pons, in both manifest SCA2 patients and individuals at risk for SCA2 compared to controls. Comparing patients with nonataxic preclinical SCA2 mutation carriers, we found more pronounced reductions of the pontine brainstem and cerebellum in manifest SCA2. Volumetric data further showed associations with CAG repeat length and predicted age of onset in preclinical SCA2 individuals, and by trend with ataxia signs in patients. Although saccade velocity was associated with reduction in the pontine brainstem in preclinical and manifest SCA2, reduced ability to suppress interfering stimuli measured by the Stroop task was related to cerebellar volume loss in patients. Interpretation: Preclinical SCA2 mutation carriers exhibit brain abnormalities, which could be targeted as surrogate parameters for disease progression and in future preventive trials.
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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.