Dataset Information

Non-motor Symptoms in Chinese Patients With Isolated Generalized Dystonia: A Case-Control Study.

ABSTRACT: Background: Previous studies have indicated that non-motor symptoms are primary problems in focal dystonia, but limited data are available about non-motor problems and their correlation with motor severity in generalized dystonia (GD). Methods: In the present study, we performed a case-control study and enrolled isolated inherited or idiopathic GD patients and age- and sex-matched healthy controls (HC). Clinical characteristics, motor symptoms, non-motor problems, including psychiatric co-morbidity, sleep problems, fatigue, and quality of life (QoL) were assessed in both groups using various rating scales and assessments. Results: Thirty-three patients with GD and 33 controls were enrolled. Significant higher scores on depression and anxiety (p < 0.001) were shown in GD compared with HC, whereas the frequency of obsessive-compulsive disorders approached that of HC (p = 0.238). Patients with GD also had significantly higher Pittsburg Sleep Quality Index (PSQI) and fatigue scores than HC, whereas no difference was observed in excessive daytime somnolence. In GD, QoL was more impaired, with statistically lower scores in both physical and mental components. Psychiatric rating scales did not correlate to motor severity or disease duration but might influence quality of sleep. Subgroup analysis suggests non-motor manifestations differ with different etiologies in GD. Conclusion: This study suggests that non-motor symptoms in GD, such as psychiatric problems, are likely to be primary determinants not correlated to motor severity, which may also affect quality of sleep and fatigue.

SUBMITTER: Li S

PROVIDER: S-EPMC7156613 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Non-motor Symptoms in Chinese Patients With Isolated Generalized Dystonia: A Case-Control Study.

Li Shanglin S Wang Lin L Yang Yingmai Y Qiao Lei L Zhang Dingding D Wan Xinhua X

Frontiers in neurology 20200408

<b>Background:</b> Previous studies have indicated that non-motor symptoms are primary problems in focal dystonia, but limited data are available about non-motor problems and their correlation with motor severity in generalized dystonia (GD). <b>Methods:</b> In the present study, we performed a case-control study and enrolled isolated inherited or idiopathic GD patients and age- and sex-matched healthy controls (HC). Clinical characteristics, motor symptoms, non-motor problems, including psychia ...[more]

PMID: 32322234

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Project description:BackgroundDystonia is a rare movement disorder, in which patients suffer from involuntary twisting movements or abnormal posturing. Next to these motor symptoms, patients have a high prevalence of psychiatric comorbidity, suggesting a role for serotonin in its pathophysiology. This study investigates the percentage of DNA methylation of the gene encoding for the serotonin reuptake transporter (SLC6A4) in dystonia patients and the associations between methylation levels and presence and severity of psychiatric symptoms.MethodsPatients with cervical dystonia (n = 49), myoclonus dystonia (n = 41) and dopa-responsive dystonia (DRD) (n = 27) and a group of healthy controls (n = 56) were included. Psychiatric comorbidity was evaluated with validated questionnaires. Methylation levels of 20 CpG sites situated 69 to 213 base pairs upstream of the start codon of SLC6A4 were investigated. Methylation in dystonia patients was compared to healthy controls, correcting for age, and correlated with psychiatric comorbidity.ResultsBootstrapped quantile regression analysis showed that being a dystonia patient compared to a healthy control significantly explains the methylation level at two CpG sites (CpG 24: pseudo-R2 = 0.05, p = 0.04, CpG 32: pseudo-R2 = 0.14, p = 0.03). Subgroup analysis revealed that being a DRD patient significantly explained a part of the variance of methylation levels at two CpG sites (CpG 21: pseudo-R2 = 0.03, p = 0.00, CpG 24: pseudo-R2 = 0.06, p = 0.03). Regression analysis showed that methylation level at CpG 38 significantly explained a small proportion of the variance of severity score for anxiety (R2 = 0.07, p = 0.04) and having a diagnosis of depression (Nagelkerke R2: 0.11, p = 0.00). Genotype of the 5-HTTLPR polymorphism had no additional effect on these associations.ConclusionsThis study showed an association between percentage of methylation at several specific sites of the promoter region of SLCA64 and (dopa-responsive) dystonia patients compared to healthy controls. Furthermore, methylation levels were associated with severity of anxiety and presence of a depressive disorder in the dystonia group. This study suggests alterations in the serotonergic metabolism in dystonia patients, and its relation with the non-motor symptoms.

Dataset Information

Non-motor Symptoms in Chinese Patients With Isolated Generalized Dystonia: A Case-Control Study.

Publications

Non-motor Symptoms in Chinese Patients With Isolated Generalized Dystonia: A Case-Control Study.

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