ArticleTremor and other hyperkinetic movements (New York, N.Y.)2013
Key issues in essential tremor genetics research: Where are we now and how can we move forward?
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Lack of Familial Aggregation of the "Essential Tremor-Plus" Phenotype in Familial Essential Tremor.Neuroepidemiology · 2022Article
- Dysfunction of parvalbumin neurons in the cerebellar nuclei produces an action tremor.The Journal of clinical investigation · 2020Article
- Essential tremor pathology: neurodegeneration and reorganization of neuronal connections.Nature reviews. Neurology · 2020Review
- Subtle Cerebellar Features in Relatives of Essential Tremor Cases.Frontiers in neurology · 2020Article
- Blood Harmane (1-Methyl-9H-Pyrido[3,4-b]indole) and Mercury in Essential Tremor: A Population-Based, Environmental Epidemiology Study in the Faroe Islands.Neuroepidemiology · 2020Article
- Prevalence of Essential Tremor in the Faroe Islands: A Population-Based Study.Neuroepidemiology · 2019Article
- Comparative Burden of Subclinical Tremor in a Cohort of Normal Individuals Stratified by Familial Risk for Essential Tremor.Neuroepidemiology · 2018Article
- Essential tremor.Handbook of clinical neurology · 2018Review
- Knowledge about Essential Tremor: A Study of Essential Tremor Families.Frontiers in neurology · 2018Article
- Genetic Testing Preferences of Individuals in Families with Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Article
- Caffeine Consumption in First-Degree Relatives of Essential Tremor Cases: Evidence of Dietary Modification Before Disease Onset.Neuroepidemiology · 2018Article
- Action Tremor Asymmetry Profile Does Not Aggregate in Families with Essential Tremor.Frontiers in neurology · 2017Article
- Familial Aggregation of the Cerebellar Signs in Familial Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2017Article
- Linking Essential Tremor to the Cerebellum: Neuropathological Evidence.Cerebellum (London, England) · 2016Review
- Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.Human molecular genetics · 2015Article
- Heterogeneity of tremor mechanisms assessed by tremor-related cortical potential in mice.Molecular brain · 2015Article
- Understanding essential tremor: progress on the biological front.Current neurology and neuroscience reports · 2014Review
- Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?Tremor and other hyperkinetic movements (New York, N.Y.) · 2014Article
- Mini Review: linkages between essential tremor and Parkinson's disease?Frontiers in cellular neuroscience · 2013Article
- Challenges in essential tremor genetics.Revue neurologiqueReview
Corrections and comments
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Authors and funding
1 author.
Funding
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Abstract
backgroundGenetics research is an avenue towards understanding essential tremor (ET). Advances have been made in genetic linkage and association: there are three reported ET susceptibility loci, and mixed but growing data on risk associations. However, causal mutations have not been forthcoming. This disappointing lack of progress has opened productive discussions on challenges in ET and specifically ET genetics research, including fundamental assumptions in the field.
methodsThis article reviews the ET genetics literature, results to date, the open questions in ET genetics and the current challenges in addressing them.
resultsSEVERAL INHERENT ET FEATURES COMPLICATE GENETIC LINKAGE AND ASSOCIATION STUDIES: high potential phenocopy rates, inaccurate tremor self-reporting, and ET misdiagnoses are examples. Increasing use of direct examination data for subjects, family members, and controls is one current response. Smaller moves towards expanding ET phenotype research concepts into non-tremor features, clinically disputed ET subsets, and testing phenotype features instead of clinical diagnosis against genetic data are gradually occurring. The field has already moved to considering complex trait mechanisms requiring detection of combinations of rare genetic variants. Hypotheses may move further to consider novel mechanisms of inheritance, such as epigenetics. DISCUSSION: It is an exciting time in ET genetics as investigators start moving past assumptions underlying both phenotype and genetics experimental contributions, overcoming challenges to collaboration, and engaging the ET community. Multicenter collaborative efforts comprising rich longitudinal prospective phenotype data and neuropathologic analysis combined with the latest in genetics experimental design and technology will be the next wave in the field.
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