ArticleParkinsonism & related disorders2019
Extensive cerebellar and thalamic degeneration in spinocerebellar ataxia type 10.
Article in Parkinsonism & related disorders, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 23 citations in OpenAlex.
- Somatosensory Evoked Potentials in Spinocerebellar Ataxia Type 3 and Type 10.Cerebellum (London, England) · 2026Article
- Functional connectivity alterations in spinocerebellar ataxia type 10: insights from gray matter atrophy.Brain imaging and behavior · 2026Article
- The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.Journal of neurology · 2025Article
- Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10.PloS one · 2025Article
- Gray Matter Asymmetry Alterations in Patients With Spinocerebellar Ataxia Type 3: A Voxel-Based Morphometric Comparison Study.CNS neuroscience & therapeutics · 2024Article
- A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.Cerebellum (London, England) · 2024Review
- 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
- Article
- ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.HGG advances · 2022Article
- Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions.Cells · 2022Review
- Cerebellar Abnormalities on Proton MR Spectroscopy and Imaging in Patients With Gluten Ataxia: A Pilot Study.Frontiers in human neuroscience · 2022Article
- Altered cerebral blood flow in patients with spinocerebellar degeneration.Frontiers in neuroscience · 2022Article
- The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10.Frontiers in genetics · 2022Review
- Cerebellar Degeneration Signature in Huntington's Disease.Cerebellum (London, England) · 2021Article
- Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients.Parkinsonism & related disorders · 2020Article
- Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients.Cerebellum (London, England) · 2020Article
- Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.Cerebellum (London, England) · 2020Review
- Cerebellar Astrocytes: Much More Than Passive Bystanders In Ataxia Pathophysiology.Journal of clinical medicine · 2020Review
- Feasibility and preliminary signal of cerebellar intermittent theta burst stimulation for static balance in cerebellar ataxia: a pilot study.Frontiers in neurologyArticle
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9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionSpinocerebellar ataxia type 10 (SCA10) is a hereditary neurodegenerative disorder caused by repeat expansions in the ATXN10 gene. Patients present with cerebellar ataxia frequently accompanied by seizures. Even though loss of cerebellar Purkinje neurons has been described, its brain degeneration pattern is unknown. Our aim was to characterize the gray and white matter degeneration patterns in SCA10 patients and the association with clinical features.
methodsWe enrolled 18 patients with molecular diagnosis of SCA10 and 18 healthy individuals matched for age and sex. All participants underwent brain MRI including high-resolution anatomical and diffusion images. Whole-brain Tract-Based Spatial Statistics (TBSS) and Voxel-Based Morphometry (VBM) were performed to identify white and grey matter degeneration respectively. A second analysis in the cerebellum identified the unbiased pattern of degeneration. Motor impairment was assessed using the SARA Scale.
resultsTBSS analysis in the patient group revealed white matter atrophy exclusively in the cerebellum. VBM analysis showed extensive grey matter degeneration in the cerebellum, brainstem, thalamus, and putamen. Significant associations between cerebellar degeneration and SARA scores were found. Additionally, degeneration in thalamic GM and WM in the cerebellar lobule VI were significantly associated with the presence of seizures.
conclusionThe results show that besides cerebellum and brainstem, brain degeneration in SCA10 includes predominantly the putamen and thalamus; involvement of the latter is strongly associated with seizures. Analysis of the unbiased degeneration pattern in the cerebellum suggests lobules VIIIb, IX, and X as the primary cerebellar targets of the disease, which expands to the anterior lobe in later stages.
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