Genetics of essential tremor

Tio, Murni; Tan, Eng‐King

doi:10.1016/j.parkreldis.2015.09.022

Cited by 51 publications

(47 citation statements)

References 28 publications

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“…Furthermore, it is common for investigators to deviate from the MDS criteria, and patients fulfilling the MDS criteria subsequently may develop signs of Parkinson disease (PD), dystonia and other disorders [8]. As published prevalence estimates of ET vary and genetic risks likely are multiple [9], it is probable that the term ET encompasses multiple disorders [10]. Although the MDS criteria exclude abnormal neurological signs other than tremor, delineating the core phenotypic features of ET is challenging and somewhat arbitrary because there is no diagnostic marker for ET.…”

Section: Introductionmentioning

confidence: 99%

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Knowledge gaps and research recommendations for essential tremor

Hopfner

Haubenberger

Galpern

et al. 2016

Parkinsonism & Related Disorders

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Essential tremor (ET) is a common cause of significant disability, but its etiologies and pathogenesis are poorly understood. Research has been hampered by the variable definition of ET and by non-standardized research approaches. The National Institute of Neurological Disorders and Stroke (USA) invited experts in ET and related fields to discuss current knowledge, controversies, and gaps in our understanding of ET and to develop recommendations for future research. Discussion focused on phenomenology and phenotypes, therapies and clinical trials, pathophysiology, pathology, and genetics. Across all areas, the need for collaborative and coordinated research on a multinational level was expressed. Standardized data collection using common data elements for genetic, clinical, neurophysiological, and pathological studies was recommended. Large cohorts of patients should be studied prospectively to collect bio-samples, characterize the natural history of the clinical syndrome including patient-oriented outcomes, investigate potential etiologies of various phenotypes, and identify pathophysiological mechanisms. In particular, cellular and system-level mechanisms of tremor oscillations should be elucidated because they may yield effective therapeutic targets and biomarkers. A neuropathology consortium was recommended to standardize postmortem analysis and further characterize neuropathological observations in the cerebellum and elsewhere. Furthermore, genome-wide association studies on large patient cohorts (~10,000 patients) may allow the identification of common genes contributing to risk, and whole exome or genome sequencing may enable the identification of genetic risk and causal mutations in cohorts and well-characterized families.

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Section: Introductionmentioning

confidence: 99%

“…It is highly unlikely that there is a single causal genetic abnormality in ET[9]. Work on gene discovery in ET probably has been hampered by a high phenocopy rate, non-Mendelian inheritance, locus heterogeneity in monogenic ET, and a lack of diagnostic biomarkers.…”

Section: Introductionmentioning

confidence: 99%

Knowledge gaps and research recommendations for essential tremor

Hopfner

Haubenberger

Galpern

et al. 2016

Parkinsonism & Related Disorders

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“…Additionally, variations in the alpha-synuclein gene (SNCA), the dopamine receptor D3 gene (DRD3), the leucine-rich repeat and Ig domain containing 1 gene (LINGO1), LINGO2, the solute carrier family 1 (glial high affinity glutamate transporter) member 2 gene (SLC1A2), the heme oxygenase 1 gene (HMOX1), and HMOX2 have also been reported to be associated with ET susceptibility, although more replication studies are warranted (2,3). The worldwide prevalence of ET is estimated to be 0.9%, increasing to 4.6% in individuals ≥65 years (1).…”

Section: Introductionmentioning

confidence: 99%

“…Rare mutations in the fused in sarcoma gene (FUS, MIM 137070), the HtrA serine peptidase 2 gene (HTRA2, MIM 606441), the sortilin 1 gene (SORT1, MIM 602458), the teneurin transmembrane protein 4 gene (TENM4, MIM 610084), and the sodium channel voltage gated type IV alpha subunit gene (SCN4A, MIM 603967) were found in a few ET families. Additionally, variations in the alpha-synuclein gene (SNCA), the dopamine receptor D3 gene (DRD3), the leucine-rich repeat and Ig domain containing 1 gene (LINGO1), LINGO2, the solute carrier family 1 (glial high affinity glutamate transporter) member 2 gene (SLC1A2), the heme oxygenase 1 gene (HMOX1), and HMOX2 have also been reported to be associated with ET susceptibility, although more replication studies are warranted (2,3).…”

Section: Introductionmentioning

confidence: 99%

Genetic analysis of PITX3 variants in patients with essential tremor

et al. 2016

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“…However, subsequent attempts to replicate these associations yielded mixed results that varied according to the origin of the population examined . Recently, rare deleterious FUS (fused in sarcoma) variations were identified as causative in familial ET cases; although these penetrant mutations only explain a small subset of cases, they made FUS the first ET causative gene identified (for a recent review on ET genetics, see Tioa and Tan).…”

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confidence: 99%