Journal article
Improving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease: Considering Nonmotor Presentations
Neurology. Clinical practice, Vol.15(2), e200427
04/2025
DOI: 10.1212/CPJ.0000000000200427
PMCID: PMC11741291
PMID: 39830677
Abstract
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.
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.
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.
Details
- Title: Subtitle
- Improving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease: Considering Nonmotor Presentations
- Creators
- Ciaran M Considine - Vanderbilt University Medical CenterClare M Eddy - University of BirminghamSamuel A Frank - Beth Israel Deaconess Medical CenterSandra K Kostyk - The Ohio State University Wexner Medical CenterMayke Oosterloo - Maastricht UniversityAnnie Killoran - University of IowaErin Furr Stimming - The University of Texas Health Science Center at HoustonMatthias Dose - Isar-Amper-Klinikum München-OstTravis Cruickshank - Edith Cowan UniversityThomas D Bird - University of WashingtonLouise Vetter - Huntington's Disease Society of AmericaAstri Arnesen - Huntington's Disease AssociationJames ValvanoHerwig W Lange - Heinrich Heine University DüsseldorfDaniel O Claassen - Vanderbilt University Medical Center
- Resource Type
- Journal article
- Publication Details
- Neurology. Clinical practice, Vol.15(2), e200427
- DOI
- 10.1212/CPJ.0000000000200427
- PMID
- 39830677
- PMCID
- PMC11741291
- NLM abbreviation
- Neurol Clin Pract
- ISSN
- 2163-0402
- eISSN
- 2163-0933
- Publisher
- LIPPINCOTT WILLIAMS & WILKINS
- Language
- English
- Date published
- 04/2025
- Academic Unit
- Neurology; Psychiatry
- Record Identifier
- 9984775262102771
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