Evidence map›Paper›PMID 41104576›Full record

ReviewEuropean journal of neurology2025

Update on Genetic Chorea.

Jesús Pérez-Pérez, Gonzalo Olmedo-Saura, Saül Martínez-Horta, Sara Bernal, Javier Pagonabarraga, Jaime Kulisevsky

Abstract readReview
In one paragraph

Review in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Update on Genetic Chorea.European journal of neurology · 2025
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Jesús Pérez-PérezMovement Disorders Unit, Neurology Department, Sant Pau Hospital, Barcelona, Spain.ORCID 0000-0002-9835-0484
Gonzalo Olmedo-SauraMovement Disorders Unit, Neurology Department, Sant Pau Hospital, Barcelona, Spain.ORCID 0000-0003-4864-5548
Saül Martínez-HortaMovement Disorders Unit, Neurology Department, Sant Pau Hospital, Barcelona, Spain.ORCID 0000-0003-0125-7249
Sara BernalMedicine Department, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.ORCID 0000-0003-4427-0574
Javier PagonabarragaMovement Disorders Unit, Neurology Department, Sant Pau Hospital, Barcelona, Spain.ORCID 0000-0002-3248-704X
Jaime KulisevskyMovement Disorders Unit, Neurology Department, Sant Pau Hospital, Barcelona, Spain.ORCID 0000-0003-4870-1431

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

ChoreaNeuroacanthocytosisGenetic TestingHumansHuntington Diseasebenign hereditary choreahereditary choreaHuntington disease‐likeHuntington's diseaseneuroacanthocytosis

Identifiers

PMID41104576
PMCPMC12531716

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.