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Systematic analysis of genetic variants in patients with essential tremor.

ABSTRACT: BACKGROUND:Essential tremor (ET), a prevalent neurological disorder, is featured by postural and kinetic tremors in upper limbs. Studies of twins and families indicate an important role for genetic factors in ET development. There are substantial overlaps between ET and Parkinson's disease (PD). The aim of this study was to examine the possible roles of genetic variants in ET development. METHODS:A total of 200 Han Chinese ET patients and 432 ethnically matched normal controls were enrolled, and genetic analysis of 23 variants in 15 genes was performed. RESULTS:Genotypic and allelic frequencies of the melanocortin 1 receptor gene (MC1R) variant rs34090186 showed statistically significant differences in ET patients and controls (p = 0.027 and 0.028, odds ratio = 2.789 and 2.744, 95% confidence interval: 1.084-7.179 and 1.075-7.005). No statistically significant difference was revealed in either genotypic or allelic distributions of other variants or haplotypes (all p > 0.05). CONCLUSIONS:The discrepancies found in this study indicate the variant rs34090186 in the MC1R gene, some variants of which were reported to be related to increased risk of PD and melanoma, may play a risk role in ET, confirming a potential association between ET and PD. Evidence supporting ET-PD link will continue to accumulate and improve our understanding of any underlying mechanisms for both disorders.

SUBMITTER: Yuan L

PROVIDER: S-EPMC6192404 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

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Systematic analysis of genetic variants in patients with essential tremor.

Yuan Lamei L Deng Xiong X Song Zhi Z Deng Sheng S Zheng Wen W Mao Ping P Deng Hao H

Brain and behavior 20180905 10

<h4>Background</h4>Essential tremor (ET), a prevalent neurological disorder, is featured by postural and kinetic tremors in upper limbs. Studies of twins and families indicate an important role for genetic factors in ET development. There are substantial overlaps between ET and Parkinson's disease (PD). The aim of this study was to examine the possible roles of genetic variants in ET development.<h4>Methods</h4>A total of 200 Han Chinese ET patients and 432 ethnically matched normal controls wer ...[more]

PMID: 30252209

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Project description:Background Essential tremor (ET) is among the most common movement disorders in adults. While ET is diagnosed and primarily characterized by the presence of tremor, it also can impact cognition, sleep, mood, and motor functioning more broadly. The manifestations of ET can have various consequences, including difficulty with activities of daily living (ADL), embarrassment, and overall decline in health-related quality of life, which have not been fully explored in prior studies. Objective We performed a systematic literature review to comprehensively characterize the burden experienced by patients with ET from the clinical and humanistic perspectives, focusing on outcomes beyond tremor. Methods This systematic literature review followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Searches in PubMed, Embase, and Cochrane Library identified original, observational studies of the clinical and humanistic burden in adult patients with ET published in English between 2010 and 2020. Studies assessing epidemiology, treatment patterns, or disease management were excluded. Search results were screened according to pre-determined eligibility criteria. Data from included studies were collected, independently verified, and qualitatively synthesized. Results Following the screening of 2,303 records and 145 full-text articles, 39 studies were identified. There was significant heterogeneity in study designs, statistical approaches, and patient cohorts across the included studies. Patients with ET in these studies exhibited more severe disabilities and reduced independence compared to healthy individuals, and they often struggled to perform ADL and relied on caregivers for physical and emotional support. Patients also experienced various issues with movement and balance, increased risk of falls, depression, anxiety, poor sleep quality, and psychosocial consequences including embarrassment, apathy, and enfeeblement. Conclusion A systematic literature review of non-tremor manifestations and/or consequences of ET identified far-reaching negative impacts on patients' ability to function independently and revealed accompanying psychosocial effects, including social fear and embarrassment. The reduced function and psychosocial deficits observed in patients with ET result in significant clinical and humanistic burdens, decreasing quality of life. Future studies should evaluate this condition beyond the tremor itself to provide an improved understanding of the multi-dimensional burden of the disease, thereby highlighting the need to diagnose and appropriately manage patients with ET.

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Systematic analysis of genetic variants in patients with essential tremor.

Publications

Systematic analysis of genetic variants in patients with essential tremor.

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