Cerebrospinal Fluid Proenkephalin Predicts Striatal Atrophy Decades before Clinical Motor Diagnosis in Huntington's Disease
Lower baseline CSF PENK concentration predicted longitudinal striatal atrophy and CSF PENK outperformed CSF NfL in distinguishing HD-ISS stages 0 and 1, supporting its role as a striatum-specific biomarker with potential to enrich early-stage HD trial cohorts. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Rachael I. Scahill (ORCID: https://orcid.org/0000-0002-1832-106X)
- Johan Gobom (ORCID: https://orcid.org/0000-0001-6193-6193)
- Douglas R. Langbehn (ORCID: https://orcid.org/0000-0002-7803-4679)
- Edward J. Wild (ORCID: https://orcid.org/0000-0002-6921-7887)
- Kate Fayer (ORCID: https://orcid.org/0000-0002-4198-2632)
- Michael J. Murphy (ORCID: https://orcid.org/0000-0001-6735-125X)
- Michela Leocadi (ORCID: https://orcid.org/0000-0001-7321-6054)
- Darren G. Monckton (ORCID: https://orcid.org/0000-0002-8298-8264)
- Marc Ciosi (ORCID: https://orcid.org/0000-0002-7663-4080)
- Mena S. Farag (ORCID: https://orcid.org/0000-0002-0679-0117)
- Amanda Heslegrave (ORCID: https://orcid.org/0000-0002-7290-6405)
- Olivia Thackeray
- Nicola Z. Hobbs
- Henrik Zetterberg (ORCID: https://orcid.org/0000-0002-4671-6763)
Institutions
- University of Iowa (US)
- Sahlgrenska University Hospital (SE)
- Huntington's Disease Association (GB)
- UK Dementia Research Institute (GB)
- MRC Prion Unit (GB)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- University of Glasgow (GB)
- University of Gothenburg (SE)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-09-26
- DOI
- https://doi.org/10.1002/mds.70062
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Alzheimer's Association
- Alzheimer's Drug Discovery Foundation
- Myotonic Dystrophy Foundation
- Pfizer
- Sanofi
- CHDI Foundation
- Alnylam Pharmaceuticals
- Familjen Erling-Perssons Stiftelse
- Cure Alzheimer's Fund
- Stiftelsen för Gamla Tjänarinnor
- Vertex Pharmaceuticals
- PTC Therapeutics
- EU Joint Programme – Neurodegenerative Disease Research
- Ionis Pharmaceuticals
- Sage Therapeutics
- Sarepta Therapeutics
- European Huntington's Disease Network
- National Institute for Health and Care Research
- University College London
- European Commission
- Hjärnfonden
- Vetenskapsrådet
- Göteborgs Universitet
- Ministry of Minority Affairs
- Science for Life Laboratory
- UK Dementia Research Institute
- HORIZON EUROPE Framework Programme
- Medical Research Council
- Sahlgrenska Akademin
- National Institute of Neurological Disorders and Stroke