ArticleBrain research2015
Dystonia and cerebellar degeneration in the leaner mouse mutant.
Article in Brain research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Aberrant outputs of glutamatergic neurons in deep cerebellar nuclei mediate dystonic movements.Science advances · 2025Article
- Cerebellar contributions to dystonia: unraveling the role of Purkinje cells and cerebellar nuclei.Dystonia (Lausanne, Switzerland) · 2025Article
- Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia.Brain : a journal of neurology · 2023Observational
- Hard X-Ray Nanoholotomography: Large-Scale, Label-Free, 3D Neuroimaging beyond Optical Limit.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2018Article
- Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.Cerebellum (London, England) · 2017Article
- Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Neuroscience and biobehavioral reviews · 2017Review
- The Anatomical Basis for Dystonia: The Motor Network Model.Tremor and other hyperkinetic movements (New York, N.Y.) · 2017Review
- Cerebellar Intermittent Theta-Burst Stimulation and Motor Control Training in Individuals with Cervical Dystonia.Brain sciences · 2016Article
- Tomographic brain imaging with nucleolar detail and automatic cell counting.Scientific reports · 2016Article
- A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation.Human molecular genetics · 2015Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Cerebellar degeneration is traditionally associated with ataxia. Yet, there are examples of both ataxia and dystonia occurring in individuals with cerebellar degeneration. There is also substantial evidence suggesting that cerebellar dysfunction alone may cause dystonia. The types of cerebellar defects that may cause ataxia, dystonia, or both have not been delineated. In the current study, we explored the relationship between cerebellar degeneration and dystonia using the leaner mouse mutant. Leaner mice have severe dystonia that is associated with dysfunctional and degenerating cerebellar Purkinje cells. Whereas the density of Purkinje cells was not significantly reduced in 4 week-old leaner mice, approximately 50% of the neurons was lost by 34 weeks of age. On the other hand, the dystonia and associated functional disability became significantly less severe during this same interval. In other words, dystonia improved as Purkinje cells were lost, suggesting that dysfunctional Purkinje cells, rather than Purkinje cell loss, contribute to the dystonia. These results provide evidence that distorted cerebellar function may cause dystonia and support the concept that different types of cerebellar defects can have different functional consequences.
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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.