TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?

Tremor is a relatively common movement disorder, often seen by primary care providers, which can present from infancy through adulthood. It can be difficult to diagnose, and in recent years, neurology has made remarkable progress in its understanding of the disease that was traditionally referred to as "essential tremor" (ET) [ [1] Louis E.D. The essential tremors: evolving concepts of a family of diseases. Front. Neurol. 2021; 12650601 Crossref Scopus (18) Google Scholar ]. A number of non-motor features, including cognitive and psychiatric abnormalities, and their relationships with each other and with the clinical presentation of tremor are now better assessed than in the past [ [1] Louis E.D. The essential tremors: evolving concepts of a family of diseases. Front. Neurol. 2021; 12650601 Crossref Scopus (18) Google Scholar ]. Tremor diseases, although of massive familial clustering, are rarely assignable to monogenic causes [ [2] Bhatia K.P. Bain P. Bajaj N. et al. Consensus statement on the classification of tremors. From the task force on tremor of the international Parkinson and movement disorder society. Mov. Disord. 2018; 33: 75-87 Crossref PubMed Scopus (697) Google Scholar ]. Studies of disease aetiology have identified a number of candidate genes as well as explored several environmental determinants of disease [ [1] Louis E.D. The essential tremors: evolving concepts of a family of diseases. Front. Neurol. 2021; 12650601 Crossref Scopus (18) Google Scholar ].