ArticleNeurology2013
Metabolic changes in DYT11 myoclonus-dystonia.
Article in Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
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Who cites it
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- [European journal of nuclear medicine and molecular imaging · 2023Pooled it
- Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.Neurosurgical review · 2021Pooled it
- An 18-fluorodeoxyglucose-PET study inBrain communications · 2026Article
- Altered motor network dynamics in myoclonus-dystonia.Brain communications · 2026Article
- From SGCE gene to symptoms: decoding myoclonus-dystonia.Acta neurologica Belgica · 2025Review
- Cerebellar and extra-cerebellar symptoms in movement disorders.Arquivos de neuro-psiquiatria · 2025Review
- Sex-specific alterations of Purkinje cell firing inDystonia (Lausanne, Switzerland) · 2025Article
- Motor and sensory neurophysiology in relation to [Brain communications · 2025Article
- Cerebellar contributions to dystonia: unraveling the role of Purkinje cells and cerebellar nuclei.Dystonia (Lausanne, Switzerland) · 2025Article
- Microstructure of the cerebellum and its afferent pathways underpins dystonia in myoclonus dystonia.European journal of neurology · 2024Article
- Review
- Association of abnormal explicit sense of agency with cerebellar impairment in myoclonus-dystonia.Brain communications · 2024Article
- Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia.Brain : a journal of neurology · 2023Observational
- Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders.Advanced genetics (Hoboken, N.J.) · 2023Article
- Synaptic Dysfunction in Dystonia: Update From Experimental Models.Current neuropharmacology · 2023Review
- Synaptic effects of ethanol on striatal circuitry: therapeutic implications for dystonia.The FEBS journal · 2022Review
- ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.Molecular neurobiology · 2021Review
- Dystonia and Cerebellum: From Bench to Bedside.Life (Basel, Switzerland) · 2021Review
- Combined dystonias: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Alcohol-Responsive Hyperkinetic Movement Disorders-a Mechanistic Hypothesis.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo identify brain regions with metabolic changes in DYT11 myoclonus-dystonia (DYT11-MD) relative to control subjects and to compare metabolic abnormalities in DYT11-MD with those found in other forms of hereditary dystonia and in posthypoxic myoclonus.
methods[(18)F]-fluorodeoxyglucose PET was performed in 6 subjects with DYT11-MD (age 30.5 ± 10.1 years) and in 6 nonmanifesting DYT11 mutation carriers (NM-DYT11; age 59.1 ± 8.9 years) representing the parental generation of the affected individuals. These data were compared to scan data from age-matched healthy control subjects using voxel-based whole brain searches and group differences were considered significant at p < 0.05 (corrected, statistical parametric mapping). As a secondary analysis, overlapping abnormalities were identified by comparisons to hereditary dystonias (DYT1, DYT6, dopa-responsive dystonia) and to posthypoxic myoclonus.
resultsWe found significant DYT11 genotype-specific metabolic increases in the inferior pons and in the posterior thalamus as well as reductions in the ventromedial prefrontal cortex. Significant phenotype-related increases were present in the parasagittal cerebellum. This latter abnormality was shared with posthypoxic myoclonus, but not with other forms of dystonia. By contrast, all dystonia cohorts exhibited significant metabolic increases in the superior parietal lobule.
conclusionsThe findings are consistent with a subcortical myoclonus generator in DYT11-MD, likely involving the cerebellum. By contrast, subtle increases in the superior parietal cortex relate to the additional presence of dystonic symptoms. Although reduced penetrance in DYT11-MD has been attributed to the maternal imprinting epsilon-sarcoglycan mutations, NM-DYT11 carriers showed significant metabolic abnormalities that are not explained by this genetic model.
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Registered trials
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