Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease
Pathogenic and likely pathogenic <i>GFAP</i> variants are more prevalent in the general population than previously expected and are associated with clinical and radiological characteristics of Alexander disease. This study indicates that Alexander disease may be under-reported, misdiagnosed, or exhibit reduced penetrance.
Authors
- Jeremy Chataway (ORCID: https://orcid.org/0000-0001-7286-6901)
- David S. Lynch (ORCID: https://orcid.org/0000-0003-0615-7159)
- Delia Gagliardi (ORCID: https://orcid.org/0000-0001-8460-938X)
- Frederik Barkhof (ORCID: https://orcid.org/0000-0003-3543-3706)
- Charles Wade (ORCID: https://orcid.org/0000-0001-5199-7566)
- Henry Houlden (ORCID: https://orcid.org/0000-0002-2866-7777)
- Arianna Tucci
Institutions
- Queen Mary University of London (GB)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- National Institute for Health and Care Research (GB)
- Ospedale Maggiore (IT)
- William Harvey Research Institute (GB)
- National Hospital for Neurology and Neurosurgery (GB)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University College London (GB)
Publication Details
- Journal
- Journal of Neurology Neurosurgery & Psychiatry
- Published
- 2024-12-06
- DOI
- https://doi.org/10.1136/jnnp-2024-335089
- Citations
- 2
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Wellcome Trust
- Medical Research Council