Objective: To assess the clinical manifestations and predictors of different types of tremors in individuals with different types of isolated dystonia.
Methods: Clinical manifestations of tremor were assessed in a multicenter, international cross-sectional, cohort study of 2,362 individuals with all types of isolated dystonia (focal, segmental, multifocal, and generalized) recruited through the Dystonia Coalition.
Results: Methodical and standardized assessments of all participants in this cohort revealed the overall prevalence of any type of tremor was 53.3%. The prevalence of dystonic tremor varied from 36.9% to 48.4%, depending on criteria used to define it. To identify the factors associated with tremors in dystonia, the data were analyzed by generalized linear modeling and cluster analyses. Generalized linear modeling indicated 2 of the strongest factors associated with tremor included body region affected by dystonia and recruitment center. Tremor was also associated with severity of dystonia and duration of dystonia, but not with sex or race. The cluster analysis distinguished 8 subgroups within the whole cohort; defined largely by body region with dystonia, and secondarily by other clinical characteristics.
Conclusion: The large number of cases evaluated by an international team of movement disorder experts facilitated the dissection of several important factors that influence the apparent prevalence and phenomenology of tremor in dystonia. These results are valuable for understanding the many differences reported in prior studies, and for guiding future studies of the nosology of tremor and dystonia.
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http://dx.doi.org/10.1212/WNL.0000000000011049 | DOI Listing |
Neurogenetics
January 2025
Department of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia.
View Article and Find Full Text PDFSci Data
January 2025
Department of Radiology, China-Japan Friendship Hospital, Beijing, China.
The sharing of multimodal magnetic resonance imaging (MRI) data is of utmost importance in the field, as it enables a deeper understanding of facial nerve-related pathologies. However, there is a significant lack of multi-modal neuroimaging databases specifically focused on these conditions, which hampers our comprehensive knowledge of the neural foundations of facial paralysis. To address this critical gap and propel advancements in this area, we have released the Multimodal Neuroimaging Dataset of Meige Syndrome, Facial Paralysis, and Healthy Controls (MND-MFHC).
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
January 2025
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.
Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.
Brain Commun
January 2025
Department of Pharmacology and Therapeutics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, CanadaR3E 0T6.
Huntington's disease is caused by a CAG repeat in the gene. Repeat length correlates inversely with the age of onset but only explains part of the observed clinical variability. Genome-wide association studies highlight DNA repair genes in modifying disease onset, but further research is required to identify causal genes and evaluate their tractability as drug targets.
View Article and Find Full Text PDFActas Esp Psiquiatr
January 2025
Centro Universitário Investigação em Psicologia (CUIP) Universidade do Algarve, 8005-139 Faro, Portugal; Departamento de Psicologia e Ciências da Educação, Faculdade de Ciências Humanas e Sociais, Universidade do Algarve, 8005-139 Faro, Portugal.
Background: Mental contamination (MC) refers to feelings of internal filthiness associated with contamination obsessions. Ego-dystonic memories and thoughts can trigger MC, although it can also be activated by trauma, which is associated with the onset of post-traumatic stress disorder (PTSD). Research shows that MC, negative emotions and PTSD can occur simultaneously.
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