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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Update on Genetic Chorea.

Jesús Pérez-Pérez^1,2,3,4, Gonzalo Olmedo-Saura^1,2,3,4, Saül Martínez-Horta^1,2,3,4

¹Movement Disorders Unit, Neurology Department, Sant Pau Hospital, Barcelona, Spain.

European Journal of Neurology

|October 17, 2025

Summary

This review details hereditary choreas, a group of genetic movement disorders. It guides neurologists in diagnosing conditions like Huntington's disease through clinical and genetic testing.

Keywords:

Huntington disease‐like Huntington's disease benign hereditary chorea hereditary chorea neuroacanthocytosis

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Area of Science:

Neurology
Genetics
Movement Disorders

Background:

Hereditary choreas are a diverse group of monogenic disorders characterized by involuntary, jerky movements.
These conditions stem from genetic mutations impacting basal ganglia circuits crucial for movement, cognition, and behavior.

Purpose of the Study:

To provide a comprehensive overview of major hereditary chorea forms.
To guide neurologists in efficient diagnosis and management of these rare genetic disorders.

Main Methods:

Review of clinical, genetic, and pathophysiological features of hereditary choreas.
Discussion of diagnostic approaches, including phenotype-driven genetic testing.

Main Results:

Detailed characterization of Huntington's disease, neuroacanthocytosis, and other hereditary choreas.
Emphasis on recognizing both common and emerging genetic conditions presenting with chorea.

Conclusions:

Accurate diagnosis of hereditary choreas requires understanding their heterogeneity.
Guidance on genetic testing selection aids in reducing diagnostic delays and facilitating timely interventions.