ArticleCerebellum (London, England)2011
Spinocerebellar ataxia type 2 (SCA2): identification of early brain degeneration in one monozygous twin in the initial disease stage.
Article in Cerebellum (London, England), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 36 citations in OpenAlex.
- Article
- Betz cells of the primary motor cortex.The Journal of comparative neurology · 2024Review
- Cognitive Decline Is Closely Associated with Ataxia Severity in Spinocerebellar Ataxia Type 2: a Validation Study of the Schmahmann Syndrome Scale.Cerebellum (London, England) · 2022Article
- Altered cerebral blood flow in patients with spinocerebellar degeneration.Frontiers in neuroscience · 2022Article
- Mouse Ataxin-2 Expansion Downregulates CamKII and Other Calcium Signaling Factors, Impairing Granule-Purkinje Neuron Synaptic Strength.International journal of molecular sciences · 2020Article
- Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias.Scientific reports · 2019Article
- In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism.International journal of molecular sciences · 2019Article
- Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach.Acta neuropathologica · 2019Article
- New alternative splicing variants of the ATXN2 transcript.Neurological research and practice · 2019Article
- The complex structure ofNeurology. Genetics · 2018Article
- Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2.Annals of clinical and translational neurology · 2018Article
- On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3.Brain pathology (Zurich, Switzerland) · 2017Article
- Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate.Neurogenetics · 2015Article
- Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease.Cerebellum (London, England) · 2014Article
- Torpedo formation and Purkinje cell loss: modeling their relationship in cerebellar disease.Cerebellum (London, England) · 2014Article
- ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice.PLoS genetics · 2012Article
- Article
- Cognitive impairment in cerebellar phenotype of multiple system atrophy and its association with hot-cross bun sign.Journal of Alzheimer's disease reportsArticle
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Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxia type 2 (SCA2) is a progressive autosomal dominantly inherited cerebellar ataxia and is assigned to the CAG repeat or polyglutamine diseases. Recent morphological studies characterized the pathoanatomical features in heterozygous SCA2 patients and revealed severe neuronal loss in a large variety of cerebellar and extra-cerebellar brain sites. In the present study, we examined the brain pathoanatomy of a monozygous twin of a large Hungarian SCA2 family with pathologically extended CAG repeats in both SCA2 alleles. This unique patient was in the initial clinical stage of SCA2 and died almost 3 years after SCA2 onset. Upon pathoanatomical investigation, we observed loss of giant Betz pyramidal cells in the primary motor cortex, degeneration of sensory thalamic nuclei, the Purkinje cell layer, and deep cerebellar nuclei, as well as select brainstem nuclei (i.e., substantia nigra, oculomotor nucleus, reticulotegmental nucleus of the pons, facial, lateral vestibular, and raphe interpositus nuclei, inferior olive). All of these degenerated brain gray matter structures are known as consistent targets of the underlying pathological process in heterozygous SCA2 patients. Since they were already involved in our patient within 3 years after disease onset, we think that we were for the first time able to identify the early brain targets of the pathological process of SCA2.
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