Clinical correlates of "pure" essential tremor: the TITAN study.

Background

To date, there are no large studies delineating the clinical correlates of "pure" essential tremor (ET) according to its new definition.

Methods

From the ITAlian tremor Network (TITAN) database, we extracted data from patients with a diagnosis of "pure" ET and excluded those with other tremor classifications, including ET-plus, focal, and task-specific tremor, which were formerly considered parts of the ET spectrum.

Results

Out of 653 subjects recruited in the TITAN study by January 2022, the data of 208 (31.8%) "pure" ET patients (86M/122F) were analyzed. The distribution of age at onset was found to be bimodal. The proportion of familial cases by the age-at-onset class of 20 years showed significant differences, with sporadic cases representing the large majority of the class with an age at onset above 60 years. Patients with a positive family history of tremor had a younger onset and were more likely to have leg involvement than sporadic patients despite a similar disease duration. Early-onset and late-onset cases were different in terms of tremor distribution at onset and tremor severity, likely as a function of longer disease duration, yet without differences in terms of quality of life, which suggests a relatively benign progression. Treatment patterns and outcomes revealed that up to 40% of the sample was unsatisfied with the current pharmacological options.

Discussion

The findings reported in the study provide new insights, especially with regard to a possible inversed sex distribution, and to the genetic backgrounds of "pure" ET, given that familial cases were evenly distributed across age-at-onset classes of 20 years. Deep clinical profiling of "pure" ET, for instance, according to age at onset, might increase the clinical value of this syndrome in identifying pathogenetic hypotheses and therapeutic strategies.

Informations de copyright

Copyright © 2023 Erro, Lazzeri, Gigante, Pilotto, Magistrelli, Bologna, Terranova, Olivola, Dallocchio, Moschella, Valentino, Di Biasio, Nicoletti, De Micco, Brusa, Sorrentino, Matinella, Bertino, Paparella, Modugno, Contaldi, Padovani, Di Fonzo, Restaino, Barone and TITAN study group.

Déclaration de conflit d'intérêts

RE receives royalties from the publication of Case Studies in Movement Disorders—Common and Uncommon Presentations (Cambridge University Press, 2017) and of Paroxysmal Movement Disorders (Springer, 2020). He has received consultancies from Sanofi and honoraria for speaking from the International Parkinson's Disease and Movement Disorders Society. PB received consultancies as a member of the advisory board for Zambon, Lundbeck, UCB, Chiesi, Abbvie, and Acorda. APi received grant support from the Ministry of Education, Research and University (MIUR) and IMI H2020 Initiative (IDEA-FAST project- MI2-2018-15-06), received research support from Zambon SrL Italy and Bial Italy; he received speaker honoraria from AbbVie, BioMarin, Bial, and Zambon Pharmaceuticals. APa received grant support from the Ministry of Health (MINSAL) and the Ministry of Education, Research and University (MIUR), from CARIPLO Foundation; personal compensation as a consultant/scientific advisory board member for Biogen 2019-2020-2021 Roche 2019-2020 Nutricia 2020-2021 General Healthcare (GE) 2019; he received honoraria for lectures at meeting ADPD2020 from Roche, lecture at meeting of the Italian Society of Neurology 2020 from Biogen and from Roche, and lecture at meeting AIP 2020 and 2021 from Biogen and from Nutricia, Educational Consulting 2019-2020-2021 from Biogen. AD reports advisory board fees from Sanofi and speaking honoraria from Sanofi, Zambon, and Bial. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.