ArticleActa neuropathologica communications2014
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.
Article in Acta neuropathologica communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- Cerebellar contributions to dystonia: unraveling the role of Purkinje cells and cerebellar nuclei.Dystonia (Lausanne, Switzerland) · 2025Article
- Pathophysiology of Dyt1-Science translational medicine · 2023Article
- Improved survival and overt "dystonic" symptoms in a torsinA hypofunction mouse model.Behavioural brain research · 2020Article
- Neuropathology of Dystonia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Review
- A cell autonomous torsinA requirement for cholinergic neuron survival and motor control.eLife · 2018Article
- Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.Cerebellum (London, England) · 2017Article
- Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1 Knock-in Mice Implicates Novel Pathways in Dystonia Pathogenesis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Tor1a+/- mice develop dystonia-like movements via a striatal dopaminergic dysregulation triggered by peripheral nerve injury.Acta neuropathologica communications · 2016Article
- Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia.Acta neuropathologica communications · 2016Article
- DYT6 Dystonia: A Neuropathological Study.Neuro-degenerative diseases · 2016Article
- Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses.Tremor and other hyperkinetic movements (New York, N.Y.) · 2015Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
introductionEarly onset isolated dystonia (DYT1) is linked to a three base pair deletion (ΔGAG) mutation in the TOR1A gene. Clinical manifestation includes intermittent muscle contraction leading to twisting movements or abnormal postures. Neuropathological studies on DYT1 cases are limited, most showing no significant abnormalities. In one study, brainstem intraneuronal inclusions immunoreactive for ubiquitin, torsinA and lamin A/C were described. Using the largest series reported to date comprising 7 DYT1 cases, we aimed to identify consistent neuropathological features in the disease and determine whether we would find the same intraneuronal inclusions as previously reported.
resultThe pathological changes of brainstem inclusions reported in DYT1 dystonia were not replicated in our case series. Other anatomical regions implicated in dystonia showed no disease-specific pathological intracellular inclusions or evidence of more than mild neuronal loss.
conclusionOur findings suggest that the intracellular inclusions described previously in DYT1 dystonia may not be a hallmark feature of the disorder. In isolated dystonia, DYT1 in particular, biochemical changes may be more relevant than the morphological changes.
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