Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions

Abstract Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes. In clinical practice, however, non-genetic causes are rare. The most common genetic cause is a CAG repeat expansion in HTT, leading to Huntington’s disease (HD). Beyond HD, systematic studies have been lacking a...

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Bibliografiske detaljer

Principais autores:	Fulya Akçimen, Monica Diez-Fairen, Ignacio Alvarez, Victor Puente, Spencer Grant, Jorge Hernandez-Vara, Marzieh Khani, Mariateresa Buongiorno, Félix Javier Jiménez-Jiménez, José A. G. Agúndez, Miquel Aguilar, Esther Cubo, Jesus Perez, Javier Pagonabarraga, Núria Caballol, Asuncion Avila, Jinhui Ding, Elena García-Martín, Hortensia Alonso-Navarro, Yaroslau Compta, Carlos Cruchaga, Katrin Beyer, J. Raphael Gibbs, Andrew Singleton, Sara Bandres-Ciga, Pau Pastor, Spanish Study Group for Genetics of Chorea members
Format:	Artigo
Sprog:	Inglês
Udgivet:	Nature Portfolio 2026-04-01
Serier:	npj Genomic Medicine
Online adgang:	https://doi.org/10.1038/s41525-026-00567-y
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