Use of desferrioxamine in the treatment of aceruloplasminemia
Abstract
Aceruloplasminemia is a newly recognized autosomal recessive disorder of iron metabolism resulting in neurodegeneration of the retina and basal ganglia. We report here on the treatment of a patient who developed progressive extrapyramidal symptoms that included blepharospasm, grimacing, and rigidity associated with increased iron deposition in the brain and visceral organs. Treatment for 10 months with the iron chelator desferrioxamine decreased brain iron stores, prevented progression of the neurological symptoms, and reduced plasma lipid peroxidation. These data suggest that early treatment with this chelator may be useful in such patients to diminish central nervous system iron accumulation and to prevent or ameliorate neurological symptoms associated with neurodegeneration.
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After 10 months of deferoxamine treatment in a 63-year-old patient with aceruloplasminaemia, Miyajima and colleagues showed decreases in brain iron by MRI, which were associated with a slight improvement in neurological symptoms.
“After 10 months of deferoxamine treatment in a 63-year-old patient with aceruloplasminaemia, Miyajima and colleagues222 showed decreases in brain iron by MRI, which were associated with a slight improvement in neurological symptoms.”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [222]
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The role of iron in brain ageing and neurodegenerative disorders
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- Authors
- Miyajima, H., Takahashi, Y., Kamata, T., Shimizu, H., Sakai, N., & Gitlin, J. D.
- Affiliations
- Hamamatsu University (JP)
- Hamamatsu University School of Medicine (JP)
- Washington University in St. Louis (US)
- Corresponding author
- Gitlin, Jonathan D.
- ORCID
- Miyajima, Hiroaki
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1997-03
- Volume
- 41
- Issue
- 3
- Pages
- 404-407
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2034284309
- Cited by
- 173
- References
- 16
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 2 · 2022: 4 · 2021: 9 · 2020: 9 · 2019: 1 · 2018: 6 · 2017: 5 · 2016: 7 · 2015: 5 · 2014: 9 · 2013: 9 · 2012: 5
- FWCI
- 4.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01hl041536-13)
- National Heart, Lung, and Blood Institute (HL41536)
- 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
- aceruloplasminemia, deferoxamine, iron chelation, iron metabolism disorders, neurodegeneration, basal ganglia, extrapyramidal symptoms, blepharospasm, brain iron accumulation, lipid peroxidation, autosomal recessive disorder
- MeSH terms
- Ceruloplasmin, Deferoxamine, Diabetes Mellitus, Type 2, Female, Humans, Iron, Liver, Middle Aged, Siderophores, Iron Metabolism Disorders
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