Update on Genetic Chorea
Pérez-Pérez, Jesús (Institut de Recerca Sant Pau)
Olmedo-Saura, Gonzalo (Institut de Recerca Sant Pau)
Martínez-Horta, Saul (Institut de Recerca Sant Pau)
Bernal, Sara (Institut de Recerca Sant Pau)
Pagonabarraga Mora, Javier (Institut de Recerca Sant Pau)
Kulisevsky, Jaime (Institut de Recerca Sant Pau)
Universitat Autònoma de Barcelona. Departament de Medicina

Fecha:	2025
Resumen:	Hereditary choreas are a clinically and genetically heterogeneous group of monogenic disorders in which chorea constitutes the core or an early-dominant feature. These conditions result from various genetic mutations affecting the structures and pathways involved in movement control, primarily the caudate and putamen, ultimately impairing the basal ganglia circuits involved in the regulation of movement, cognition, and behavior. This review focuses on the main forms of hereditary choreas, including Huntington's disease, neuroacanthocytosis syndromes, Huntington's disease phenocopies, benign hereditary chorea, and other less common genetic disorders presenting with chorea. We discuss the clinical, genetic, and pathophysiological features of each condition, alongside key aspects of phenomenology, examination, and complementary tests-including laboratory findings-to guide phenotype-driven genetic testing. We detail the characteristic features of key disorders while also highlighting less common but emerging conditions. This review aims to assist neurologists in recognizing and diagnosing hereditary choreas efficiently, including guidance on the selection of appropriate genetic tests, thereby reducing diagnostic delays, informing accurate counseling, and facilitating access to disease-specific interventions and clinical trials. This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Benign hereditary chorea ; Hereditary chorea ; Huntington disease-like ; Huntington's disease ; Neuroacanthocytosis
Publicado en:	European Journal of Neurology, Vol. 32 (October 2025) , art. e70357, ISSN 1468-1331

DOI: 10.1111/ene.70357
PMID: 41104576

17 p, 1.0 MB

El registro aparece en las colecciones:
Documentos de investigación > Documentos de los grupos de investigación de la UAB > Centros y grupos de investigación (producción científica) > Ciencias de la salud y biociencias > Institut de Recerca Sant Pau
Artículos > Artículos de investigación
Artículos > Artículos publicados