Elan D Louis1. 1. Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA; Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale University, New Haven, CT, USA; Center for Neuroepidemiology and Clinical Neurological Research, Yale School of Medicine, Yale University, New Haven, CT, USA. Electronic address: elan.louis@yale.edu.
Abstract
BACKGROUND: Essential tremor (ET) is the most prevalent tremor diathesis. In this "then" and "now" piece, I detail how views of this disorder have changed over time. METHODS: A PubMed search was conducted on June 15, 2017. The term "essential tremor" was crossed in sequential order with 14 s search terms (e.g., genetics, clinical). RESULTS: The traditional view of ET was that it was monosymptomatic. An emerging view of ET is as a more clinically-complex entity with a range of possible motor and non-motor features. Traditionally, ET was viewed as autosomal dominant with complete penetrance by age 65. Current thinking is that, in addition to monogenic forms of ET, the disease is likely to be complex, with incomplete penetrance into advanced age. While non-genetic factors were traditionally presumed to exist, epidemiological studies have explored several potential environmental toxicants. The traditional olivary model of ET posited the existence of a central oscillator; an alternative is the cerebellar degenerative model, which is now under consideration. CONCLUSIONS: For ET, there is clearly a "then" and "now" when one assesses changes in our understanding of the disease with time. Indeed, concepts relating to the clinical features, disease etiology and pathogenesis have all changed substantially.
BACKGROUND:Essential tremor (ET) is the most prevalent tremor diathesis. In this "then" and "now" piece, I detail how views of this disorder have changed over time. METHODS: A PubMed search was conducted on June 15, 2017. The term "essential tremor" was crossed in sequential order with 14 s search terms (e.g., genetics, clinical). RESULTS: The traditional view of ET was that it was monosymptomatic. An emerging view of ET is as a more clinically-complex entity with a range of possible motor and non-motor features. Traditionally, ET was viewed as autosomal dominant with complete penetrance by age 65. Current thinking is that, in addition to monogenic forms of ET, the disease is likely to be complex, with incomplete penetrance into advanced age. While non-genetic factors were traditionally presumed to exist, epidemiological studies have explored several potential environmental toxicants. The traditional olivary model of ET posited the existence of a central oscillator; an alternative is the cerebellar degenerative model, which is now under consideration. CONCLUSIONS: For ET, there is clearly a "then" and "now" when one assesses changes in our understanding of the disease with time. Indeed, concepts relating to the clinical features, disease etiology and pathogenesis have all changed substantially.
Authors: Elan D Louis; Phyllis L Faust; Jean-Paul G Vonsattel; Lawrence S Honig; Alex Rajput; Christopher A Robinson; Ali Rajput; Rajesh Pahwa; Kelly E Lyons; G Webster Ross; Sarah Borden; Carol B Moskowitz; Arlene Lawton; Nora Hernandez Journal: Brain Date: 2007-11-19 Impact factor: 13.501
Authors: Kurt Farrell; Stephanie Cosentino; Megan A Iida; Silvia Chapman; David A Bennett; Phyllis L Faust; Elan D Louis; John F Crary Journal: J Neuropathol Exp Neurol Date: 2019-01-01 Impact factor: 3.685
Authors: Ashley D Cristal; Karen P Chen; Nora Cristina Hernandez; Pam Factor-Litvak; Lorraine N Clark; Ruth Ottman; Elan D Louis Journal: Front Neurol Date: 2018-01-26 Impact factor: 4.003
Authors: Soong Ho Kim; Kurt Farrell; Stephanie Cosentino; Jean-Paul G Vonsattel; Phyllis L Faust; Etty P Cortes; David A Bennet; Elan D Louis; John F Crary Journal: J Neuropathol Exp Neurol Date: 2021-09-27 Impact factor: 3.148