The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Association between Early-Onset Parkinson's Disease and Mutations in theParkinGene
Lücking, C. B., Dürr, A., Bonifati, V., Vaughan, J. R., Michele, G. D., Gasser, T., Harhangi, B. S., Meco, G., Denèfle, P., Wood, N. W., et al. (2000) · New England Journal of Medicine · doi:10.1056/nejm200005253422103 · Cited by 1,489
Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome
Hayflick, S. J., Westaway, S. K., Levinson, B., Zhou, B., Johnson, M., Ching, K. H. L., & Gitschier, J. M. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa020817 · Cited by 713
Nakamura, K. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.14.1441 · Cited by 623
Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., et al. (2001) · Nature Genetics · doi:10.1038/ng571 · Cited by 537
The DYT1 phenotype and guidelines for diagnostic testing
Bressman, S., Sabatti, C., Raymond, D., de Leon, D., Klein, C., Kramer, P. L., Brin, M. F., Fahn, S., Breakefield, X. O., Ozelius, L. J., et al. (2000) · Neurology · doi:10.1212/wnl.54.9.1746 · Cited by 363
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
Rampoldi, L., Dobson‐Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., et al. (2001) · Nature Genetics · doi:10.1038/88821 · Cited by 350
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
Ho, M. (1994) · Cell · doi:10.1016/0092-8674(94)90136-8 · Cited by 262
Morita, H., Ikeda, S., Yamamoto, K., Morita, S., Yoshida, K., Nomoto, S., Kato, M., & Yanagisawa, N. (1995) · Annals of Neurology · doi:10.1002/ana.410370515 · Cited by 245
Pillon, B., Dubois, B., Ploska, A., & Agid, Y. (1991) · Neurology · doi:10.1212/wnl.41.5.634 · Cited by 231
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
Rolfs, A., Koeppen, A. H., Bauer, I., Bauer, P., Buhlmann, S., Topka, H. R., Schöls, L. J., & Rieß, O. (2003) · Annals of Neurology · doi:10.1002/ana.10676 · Cited by 231
Research works printed but not linked: 1
- Fink JK, Filling-Katz MR, Sokol J, Cogan DG, Pikus A, Sonies B, et al. Clinical spectrumof Niemann-Pick diseasetype C. Neurology1989;39: 1040-9.
Cited by
Sorted by citations
Items 201–205 of 205
Milward, E. A., Hood, R. J., Lin, C.-A., Bettencourt, C., Acquah, E., Brooks, J., Collingwood, J. F., Kagawa, Y., Richardson, S. J., Wu, Y., et al. (2026) · Cells · doi:10.3390/cells15060511
Identification de nouvelles protéines des synapses à ruban
Dodo, S. M. B. (2014) · theses.fr (ABES) · doi:10.70675/5df68f4bz2e9az4c6fzb885z370dc0cd9046
Schneider, S. A., Garg, D., Iankova, V., & Klopstock, T. (2026) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.70736
Milardi, D., Han, J., Lee, H. J., Ding, F., Miller, Y., Faller, P., Bush, A. I., Crouch, P. J., Finkelstein, D. I., Double, K. L., et al. (2026) · Chemical Reviews · doi:10.1021/acs.chemrev.5c00420
Movement disorders in metabolic diseases in adulthood
Carecchio, M., Schneider, S. A., & Bhatia, K. P. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781139175845.009
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
