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Essential tremor: emerging views of a common disorder

Abstract

Essential tremor (ET) is the most prevalent tremor disorder. ET has traditionally been viewed as a monosymptomatic disorder characterized by a kinetic arm tremor, but this definition is gradually being replaced. The clinical spectrum has come to include several motor features, including tremor and ataxia, and several non-motor features, including possible cognitive impairment and personality disturbances. Postmortem studies are revealing several different patterns of pathology. The emerging view is that ET might be a family of diseases, unified by the presence of kinetic tremor, but further characterized by etiological, clinical and pathological heterogeneity. Effective pharmacological treatments for the disorder remain limited, although new insights into disease mechanisms might result in more-effective therapies. In addition, recent investigations of environmental toxicants that might be linked to ET open the way towards primary disease prevention through a reduction in exposure to these factors.

Key Points

  • Essential tremor (ET), a progressive disorder of the CNS, is characterized primarily by kinetic tremor of the arms, possibly accompanied by other motor features (e.g. ataxia or rest tremor) and non-motor features (e.g. cognitive impairment and personality disturbances)

  • The clinical diagnosis of ET is based on medical history and physical examination—a 4–12 Hz kinetic tremor is present in the arms, and tremor might also be present in the head, jaw and voice

  • The cause of ET is unclear; the tremor itself it believed to be mediated by a neuronal loop involving cerebellothalamocortical fibers

  • Recent postmortem studies have demonstrated a heterogeneous pathology, with ET cases clustered into two groups: those with cerebellar degenerative changes, and those with brainstem Lewy bodies ('Lewy body variant of ET')

  • The etiology of ET is often genetic; although specific genes associated with ET have not yet been identified, susceptibility loci have been found on chromosomes 3q13, 2p22 and 6p

  • Several environmental toxicants, including harmane and lead, have been tentatively linked with ET

  • The mainstays of therapy for ET are propranolol and primidone, although several promising new agents have been introduced in recent years; surgical treatment (deep brain stimulation) is also effective

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Figure 1: Section of cerebellar folium from a patient with essential tremor, showing two torpedoes (arrows).
Figure 2: Section of the dentate nucleus from an individual with essential tremor, showing neuronal loss.
Figure 3: Multiple Lewy bodies (arrows) are seen in a section of the locus ceruleus from a patient with essential tremor.
Figure 4: Archimedean spirals drawn by individuals with and without essential tremor.

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Acknowledgements

ED Louis is supported by grants R01 NS39422, R01 NS42859 and P30 ES09089 from the National Institutes of Health, Bethesda, MD, USA. No funding source was involved in the preparation of this article.

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Benito-León, J., Louis, E. Essential tremor: emerging views of a common disorder. Nat Rev Neurol 2, 666–678 (2006). https://doi.org/10.1038/ncpneuro0347

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  • DOI: https://doi.org/10.1038/ncpneuro0347

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