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Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
Open accessAbstract
Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin light chain gene (FTL1). Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Huntington's disease, but the phenotype and natural history have not been defined. We studied a genetically homogeneous group of 41 subjects with the 460InsA mutation in FTL1, documenting the presentation, clinical course, biochemistry and neuroimaging. The mean age of onset was 39.4 years (SD = 13.3, range 13-63), beginning with chorea in 50%, focal lower limb dystonia in 42.5% and parkinsonism in 7.5%. The majority reported a family history of a movement disorder often misdiagnosed as Huntington's disease. The disease progressed relentlessly, becoming generalized over a 5-10 year period, eventually leading to aphonia, dysphagia and severe motor disability with subcortical/frontal cognitive dysfunction as a late feature. A characteristic action-specific facial dystonia was common (65%), and in 63% there was asymmetry throughout the disease course. Serum ferritin levels were low in the majority of males and post-menopausal females, but within normal limits for pre-menopausal females. MR brain imaging was abnormal on all affected individuals and one presymptomatic carrier. In conclusion, isolated parkinsonism is unusual in neuroferritinopathy, and unlike Huntington's disease, cognitive changes are absent or subtle in the early stages. Depressed serum ferritin is common and provides a useful screening test in routine practice, and gradient echo brain MRI will identify all symptomatic cases.
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“Neuroferritinopathy, a rare adult-onset condition presenting with a range of extrapyramidal movement disorders, is caused by mutations in light-chain–ferritin185 (the principal iron storage protein) resulting in loss of function and accumulation of iron in the globus pallidus, putamen, and dentate nuclei of the cerebellum.186”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [185]
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Metadata
- Authors
- Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., Cooper, P., Kellett, M., Bates, D., & Burn, J.
- Affiliations
- Newcastle University (GB)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- The University of Queensland (AU)
- National Hospital for Neurology and Neurosurgery (GB)
- Queen's Medical Centre (GB)
- Walton Centre (GB)
- Salford Royal Hospital (GB)
- Corresponding author
- Chinnery, P. F.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-11-21
- Volume
- 130
- Issue
- 1
- Pages
- 110-119
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2147249791
- Cited by
- 205
- References
- 29
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 4 · 2023: 4 · 2022: 2 · 2021: 11 · 2020: 7 · 2019: 8 · 2018: 3 · 2017: 11 · 2016: 12 · 2015: 12 · 2014: 23 · 2013: 22 · 2012: 17
- FWCI
- 5.92
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Brain (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust
- Alzheimer's Research Trust
- Ataxia UK
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- neuroferritinopathy, chorea, facial dystonia, parkinsonism, idiopathic torsion dystonia, serum ferritin, brain MRI abnormalities, natural history (disease), extrapyramidal disorders, cognitive impairment
- MeSH terms
- Adolescent, Adult, Apoferritins, Brain, Chorea, Dystonia, Family Health, Female, Ferritins, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Movement Disorders, Mutation, Parkinson Disease, Phenotype, Sex Factors, Age of Onset, Muscle, Skeletal
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