%0 Journal Article
%T Postural tremor and sexual chromosome aneuploidies: case report and review of literature.
%A Alcalá Torres J
%A Llamas-Velasco S
%A Santos Martín C
%A Méndez Guerrero A
%J Int J Neurosci
%V 0
%N 0
%D 2024 Jan 31
%M 38294709
%F 2.59
%R 10.1080/00207454.2024.2313009
%X <B>UNASSIGNED: </B>To examine the link between tremor and sex chromosome abnormalities, emphasizing the necessity of comprehensive physical examination.<BR><B>UNASSIGNED: </B>An 18-year-old man exhibited an isolated action tremor in both hands. Despite having no familial history of tremors and no identifiable secondary causes, his tall stature and learning difficulties suggested a genetic origin. His karyotype confirmed the diagnosis of Jacob's syndrome (XYY syndrome). Therapies with primidone and propranolol were ineffective for his tremor.<BR><B>UNASSIGNED: </B>Tremor can be caused by various conditions, and aneuploidies might often be overlooked as a cause. They should be considered in young patients with concrete phenotypes and negative familiar history of tremors. Karyotyping is a cost-effective diagnostic tool crucial for genetic counselling. Common treatments for tremors often yield unsatisfactory results in these cases.