| Autor: |
Roberto Erro, Giulia Lazzeri, Angelo Fabio Gigante, Andrea Pilotto, Luca Magistrelli, Matteo Bologna, Carmen Terranova, Enrica Olivola, Carlo Dallocchio, Vincenzo Moschella, Francesca Valentino, Francesca Di Biasio, Alessandra Nicoletti, Rosa De Micco, Livia Brusa, Cristiano Sorrentino, Angela Matinella, Salvatore Bertino, Giulia Paparella, Nicola Modugno, Elena Contaldi, Alessandro Padovani, Alessio Di Fonzo, Marialuisa Restaino, Paolo Barone, TITAN study group, Giulia Franco, Anna De Rosa, Lazzaro di Biase, Marcello Esposito, Maria Chiara Malaguti, Raffaella Di Giacopo, Roberto Ceravolo, Francesca Spagnolo, Marta Bianchi, Roberta Vitaliani, Laura Maria Raglione, Francesca Morgante |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Frontiers in Neurology, Vol 14 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1664-2295 |
| DOI: |
10.3389/fneur.2023.1233524 |
| Popis: |
BackgroundTo date, there are no large studies delineating the clinical correlates of “pure” essential tremor (ET) according to its new definition.MethodsFrom 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.ResultsOut 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.DiscussionThe 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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