ArticleJournal of neural transmission (Vienna, Austria : 1996)2005
Spinocerebellar ataxias types 2 and 3: degeneration of the pre-cerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum.
Article in Journal of neural transmission (Vienna, Austria : 1996), 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 63 citations in OpenAlex.
- Investigating the pathogenic role of calpain proteases and the therapeutic potential of their inhibition in mice modelling Machado-Joseph disease.Human molecular genetics · 2026Article
- Article
- Possible mechanisms connecting cerebellar ataxias and bilateral vestibular weakness: diagnostic and therapeutic implications.Journal of neurology · 2024Article
- Genetic Ablation of Inositol 1,4,5-Trisphosphate Receptor Type 2 (IPInternational journal of molecular sciences · 2023Article
- Quantitative susceptibility mapping of basal ganglia iron is associated with cognitive and motor functions that distinguish spinocerebellar ataxia type 6 and type 3.Frontiers in neuroscience · 2022Article
- Static and Dynamic Ocular Motor Abnormalities as Potential Biomarkers in Spinocerebellar Ataxia Type 3.Cerebellum (London, England) · 2021Article
- In vivo microstructural white matter changes in early spinocerebellar ataxia 2.Acta neurologica Scandinavica · 2021Article
- In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism.International journal of molecular sciences · 2019Article
- Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway.Cerebellum (London, England) · 2017Article
- The brainstem pathologies of Parkinson's disease and dementia with Lewy bodies.Brain pathology (Zurich, Switzerland) · 2015Article
- Article
- White matter damage is related to ataxia severity in SCA3.Journal of neurology · 2014Article
- Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3).Cerebellum (London, England) · 2012Article
- ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice.PLoS genetics · 2012Article
- Spinocerebellar ataxia type 2 (SCA2): identification of early brain degeneration in one monozygous twin in the initial disease stage.Cerebellum (London, England) · 2011Article
- Axonal inclusions in spinocerebellar ataxia type 3.Acta neuropathologica · 2010Article
- Functional neuroanatomy of the human premotor oculomotor brainstem nuclei: insights from postmortem and advanced in vivo imaging studies.Experimental brain research · 2008Review
- Spinocerebellar ataxia 2 (SCA2).Cerebellum (London, England) · 2008Review
- SCA3: neurological features, pathogenesis and animal models.Cerebellum (London, England) · 2008Review
- Timing of rhythmic movements in patients with cerebellar degeneration.Cerebellum (London, England) · 2007Article
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The pre-cerebellar nuclei act as a gate for the entire neocortical, brainstem and spinal cord afferent input destined for the cerebellum. Since no pathoanatomical studies of these nuclei had yet been performed in spinocerebellar ataxia type 2 (SCA2) or type 3 (SCA3), we carried out a detailed postmortem study of the pre-cerebellar nuclei in six SCA2 and seven SCA3 patients in order to further characterize the extent of brainstem degeneration in these ataxic disorders. By means of unconventionally thick serial sections through the brainstem stained for lipofuscin pigment and Nissl material, we could show that all of the pre-cerebellar nuclei (red, pontine, arcuate, prepositus hypoglossal, superior vestibular, lateral vestibular, medial vestibular, interstitial vestibular, spinal vestibular, vermiform, lateral reticular, external cuneate, subventricular, paramedian reticular, intercalate, interfascicular hypoglossal, and conterminal nuclei, pontobulbar body, reticulotegmental nucleus of the pons, inferior olive, and nucleus of Roller) are among the targets of both of the degenerative processes underlying SCA2 and SCA3. These novel findings are in contrast to the current neuropathological literature, which assumes that only a subset of pre-cerebellar nuclei in SCA2 and SCA3 may undergo neurodegeneration. Widespread damage to the pre-cerebellar nuclei separates all three phylogenetically and functionally defined regions of the cerebellum, impairs their physiological functions and thus explains the occurrence of gait, stance, limb and truncal ataxia, dysarthria, truncal and postural instability with disequilibrium, impairments of the vestibulo-ocular reaction and optokinetic nystagmus, slowed and saccadic smooth pursuits, dysmetrical horizontal saccades, and gaze-evoked nystagmus during SCA2 and SCA3.
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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.