ArticleNeurology. Clinical practice2025
Improving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease: Considering Nonmotor Presentations.
Article in Neurology. Clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision-Making and Polygenic Embryo Screening.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
- Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling.Orphanet journal of rare diseases · 2026Article
- Article
- Revised Diagnostic Criteria for Huntington Disease: What's It Gonna Take?Neurology. Clinical practice · 2025Article
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Authors and funding
15 authors.
Funding
Abstract
Background: Huntington disease (HD) is a genetic neurodegenerative disorder. Given the focus on motor manifestations, nonmotor symptoms are frequently underappreciated in clinical evaluations, despite frequently contributing to primary functional impairment. Recent Findings: A diagnosis of motor-onset as the definition of manifest symptoms misrepresents the complex nature of HD presentation. Despite recent attempt to integrate nonmotor diagnostic criteria, practical guidelines are necessary to inform clinical diagnosis. We propose an HD diagnostic framework and staging system that prioritizes genetic testing, integrates motor and nonmotor symptom considerations in the determination of clinical disease onset and severity, and acknowledges the secondary role of clinically indicated diagnostic assessments, incorporating the broad symptom profiles observed in clinical practice. Implications for Practice: The proposed diagnostic criteria more accurately reflect the presentation of HD and provide greater opportunities for health care professionals to provide appropriate clinical care guidelines for adults with gene-expanded HD.
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