Dataset Information

Knowledge about Essential Tremor: A Study of Essential Tremor Families.

ABSTRACT: Essential tremor (ET) is among the most common neurological diseases and it often runs in families. How knowledgeable ET patients and their families are about their disease has been the subject of surprisingly little scholarship.To fill this gap in knowledge, we administered a comprehensive 32-item survey (i.e., questions about etiology, pathophysiology, symptoms and signs, natural history, and treatments) to 427 participants, including 76 ET probands, 74 affected relatives (AFRs), 238 unaffected relatives, and 39 spouses of unaffected relatives, all of whom were participating in two ET family studies. We hypothesized that there would be gaps in knowledge about ET and furthermore, that probands and AFRs would be the most knowledgeable, followed by unaffected relatives and then spouses of unaffected relatives, who would be the least knowledgeable.Overall, ET patients lacked knowledge about their disease. Nearly one-third of probands answered "yes" or "do not know" to the question, "is ET the same or different from the type of tremor that many normal people can get when they become old and frail?" A similar proportion did not know whether children could get ET or they responded "no." Nearly one-fourth of affecteds (i.e., probands and AFRs) did not know whether or to what degree (e.g., very well, moderately well, not well) the symptoms of ET could be medically controlled, and 38.0% either reported that there was no brain surgery for ET or reported that they did not know. Nearly 17% of affecteds did not endorse genes as a cause for ET, which was surprising given the fact that this was a family study of ET. Probands and AFRs were the most knowledgeable, followed by unaffected relatives. Spouses of unaffected relatives were the least knowledgeable.We targeted a large group of ET patients and their families, as this group is perhaps most likely to be informed about the disease. ET patients and their AFRs were more knowledgeable about the features of ET than their family members without ET. Overall, however, knowledge of ET was very limited and this lack of knowledge encompassed all aspects of the disease including its underlying causes, the nature of the symptoms and signs, its natural history and its treatment. Further ET awareness education and programs targeting both families of ET patients and the public would help alleviate this gap in knowledge.

SUBMITTER: Cristal AD

PROVIDER: S-EPMC5790790 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Knowledge about Essential Tremor: A Study of Essential Tremor Families.

Cristal Ashley D AD Chen Karen P KP Hernandez Nora Cristina NC Factor-Litvak Pam P Clark Lorraine N LN Ottman Ruth R Louis Elan D ED

Frontiers in neurology 20180126

<h4>Background</h4>Essential tremor (ET) is among the most common neurological diseases and it often runs in families. How knowledgeable ET patients and their families are about their disease has been the subject of surprisingly little scholarship.<h4>Methods</h4>To fill this gap in knowledge, we administered a comprehensive 32-item survey (i.e., questions about etiology, pathophysiology, symptoms and signs, natural history, and treatments) to 427 participants, including 76 ET probands, 74 affec ...[more]

PMID: 29434571

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Project description:BACKGROUND:Action tremor is the hallmark feature of essential tremor (ET). While the tremor typically is mildly asymmetric, in some patients, it is markedly asymmetric. There are few data on factors that influence this asymmetry. ET is also a highly familial disease. Whether the tremor asymmetry profile (i.e., differential expression of tremor in each arm in a given patient) is similar across family members is not known. The alternative possibility is that this feature is not heritable. There are no published data addressing this issue. The aim of this study was to determine whether the extent of action tremor asymmetry ran in ET families. METHODS:ET probands and relatives were enrolled in a genetic study at Yale and Columbia Universities. An in-person evaluation included a videotaped neurological examination, including a detailed assessment of tremors. A senior movement disorders neurologist reviewed all videotaped examinations, and the severity of postural and kinetic arm tremors was rated on 12 examination items using a reliable rating scale. The tremor asymmetry index = right arm tremor score - left arm tremor score. We used a bivariate linear regression model to assess the predictors of the tremor asymmetry index in relatives; this model used the tremor asymmetry index in the proband as a primary predictor of interest. In an analysis of variance (ANOVA), we tested for heterogeneity across families in the tremor asymmetry index (i.e., to see whether there was a significant family effect). RESULTS:There were 187 enrollees (59 probands, 128 affected relatives). In a bivariate linear regression model, the tremor asymmetry index in the proband was not a predictor of the tremor asymmetry index in their relatives (p = 0.66). In an ANOVA, family grouping did not explain a significant proportion of the total variance in the tremor asymmetry index (p = 0.56). CONCLUSION:Tremor asymmetry did not aggregate in families with ET. Therefore, this does not seem to be a disease feature that is heritable. These data will provide added value to the clinical dialog, giving patients one more piece of information about the way the disease manifests within families.

Project description:Essential tremor (ET) is one of the most common movement disorders. The etiology of ET remains largely unexplained. Whole genome sequencing (WGS) is likely to be of value in understanding a large proportion of ET with Mendelian and complex disease inheritance patterns. In ET families with Mendelian inheritance patterns, WGS may lead to gene identification where WES analysis failed to identify the causative single nucleotide variant (SNV) or indel due to incomplete coverage of the entire coding region of the genome, in addition to accurate detection of larger structural variants (SVs) and copy number variants (CNVs). Alternatively, in ET families with complex disease inheritance patterns with gene x gene and gene x environment interactions enrichment of functional rare coding and non-coding variants may explain the heritability of ET. We performed WGS in eight ET families (n = 40 individuals) enrolled in the Family Study of Essential Tremor. The analysis included filtering WGS data based on allele frequency in population databases, rare SNV and indel classification and association testing using the Mixed-Model Kernel Based Adaptive Cluster (MM-KBAC) test. A separate analysis of rare SV and CNVs segregating within ET families was also performed. Prioritization of candidate genes identified within families was performed using phenolyzer. WGS analysis identified candidate genes for ET in 5/8 (62.5%) of the families analyzed. WES analysis in a subset of these families in our previously published study failed to identify candidate genes. In one family, we identified a deleterious and damaging variant (c.1367G>A, p.(Arg456Gln)) in the candidate gene, CACNA1G, which encodes the pore forming subunit of T-type Ca(2+) channels, CaV3.1, and is expressed in various motor pathways and has been previously implicated in neuronal autorhythmicity and ET. Other candidate genes identified include SLIT3 which encodes an axon guidance molecule and in three families, phenolyzer prioritized genes that are associated with hereditary neuropathies (family A, KARS, family B, KIF5A and family F, NTRK1). Functional studies of CACNA1G and SLIT3 suggest a role for these genes in ET disease pathogenesis.

Dataset Information

Knowledge about Essential Tremor: A Study of Essential Tremor Families.

Publications

Knowledge about Essential Tremor: A Study of Essential Tremor Families.

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