Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation
Open accessAbstract
A 59-year-old man presented with refractory anemia, choreoathetosis in the left upper extremity, an unsteady gait and cognitive dysfunction. The laboratory findings showed a marked decrease in ceruloplasmin. Magnetic resonance images revealed iron deposition in the brain and visceral organs. Iron accumulation was also observed in hepatocytes. Genetic analyses of the ceruloplasmin gene revealed a novel homozygous mutation of c.2185 delC in exon 12. The oral chelator deferasirox was effective in treating the left-side choreoathetosis and unsteady gait. Providing early treatment using deferasirox may be useful for preventing the progression of symptomatic neurological dysfunction.
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The oral chelator deferasirox was effective in a 59-year-old man to treat left-side choreoathetosis and an unsteady gait.
“The oral chelator deferasirox was effective in a 59-year-old man to treat left-side choreoathetosis and an unsteady gait.223”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [223]
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The role of iron in brain ageing and neurodegenerative disorders
Ward, R. J., Zucca, F. A., Duyn, J. H., Crichton, R. R., & Zecca, L. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70117-6 · Cited by 1,819 · see citing works
- Authors
- Suzuki, Y., Yoshida, K., Aburakawa, Y., Kuroda, K., Kimura, T., Terada, T., Kono, S., Miyajima, H., & Yahara, O.
- Affiliations
- National Hospital Organization Asahikawa Medical Center (JP)
- Hamamatsu University (JP)
- ORCID
- Venue
- Internal Medicine
- Published
- 2013
- Volume
- 52
- Issue
- 13
- Pages
- 1527-1530
- ISSN
- 0918-2918 (ISSN-L)
- 1349-7235
- OpenAlex
- W1984521040
- Cited by
- 35
- References
- 15
- Citations by year
- 2024: 3 · 2023: 2 · 2022: 3 · 2021: 2 · 2020: 7 · 2018: 4 · 2017: 3 · 2016: 4 · 2015: 2 · 2014: 4 · 2013: 1
- FWCI
- 2.06
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Internal Medicine (publishedVersion)
- PubMed (publishedVersion)
- 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, deferasirox, oral iron chelation, homozygous mutation, iron overload, choreoathetosis, gait instability, cognitive impairment, refractory anemia, neurological disorders
- MeSH terms
- Deferasirox, Administration, Oral, Benzoates, Ceruloplasmin, Humans, Iron Chelating Agents, Male, Middle Aged, Mutation, Triazoles, Treatment Outcome, Iron Metabolism Disorders, Neurodegenerative Diseases
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