Neuroferritinopathy: a new inborn error of iron metabolism
Open accessAbstract
Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1). It presents in mid-adult life and is the only autosomal dominant disease in a group of conditions termed neurodegeneration with brain iron accumulation (NBIA). We performed brain MRI scans on 12 asymptomatic descendants of known mutation carriers. All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA.
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Neuroferritinopathy is caused by mutations in light-chain-ferritin resulting in loss of function and accumulation of iron in the globus pallidus, putamen, and dentate nuclei of the cerebellum.
“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 [186]
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The role of iron in brain ageing and neurodegenerative disorders
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Neurodegeneration with brain iron accumulation
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- Authors
- Keogh, M. J., Jonas, P., Coulthard, A., Chinnery, P. F., & Burn, J.
- Affiliations
- Royal Victoria Infirmary (GB)
- Centre for Life (GB)
- Royal Brisbane and Women's Hospital (AU)
- Corresponding author
- Burn, John
- Venue
- Neurogenetics
- Published
- 2012-01-26
- Volume
- 13
- Issue
- 1
- Pages
- 93-96
- ISSN
- 1364-6745 (ISSN-L)
- 1364-6753
- PMC
- PMC4038507
- OpenAlex
- W2057626412
- Cited by
- 49
- References
- 23
- Citations by year
- 2024: 2 · 2022: 1 · 2021: 2 · 2020: 3 · 2019: 1 · 2018: 3 · 2017: 3 · 2016: 8 · 2015: 6 · 2014: 7 · 2013: 7 · 2012: 6
- FWCI
- 4.18
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Neurogenetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust (096919, 071095, 101876, 084980)
- National Institute for Health and Care Research (newbrc_2012_1, NF-SI-0510-10282, NF-SI-0509-10011)
- National Institutes of Health
- Medical Research Council
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- neuroferritinopathy, neurodegeneration with brain iron accumulation, brain iron accumulation, asymptomatic mutation carriers
- MeSH terms
- Adolescent, Adult, Apoferritins, Brain, Child, Humans, Iron, Magnetic Resonance Imaging, Mutation, Neuroaxonal Dystrophies, Iron Metabolism Disorders, Brain Diseases, Metabolic, Inborn, Young Adult
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