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Neurodegeneration With Brain Iron Accumulation in a Case of Adult Aceruloplasminemia.
Cureus
August 2024
Research Team in Neurology, Department of Neurology A and Neuropsychology, Faculty of Medicine and Pharmacy, Specialty Hospital, University Mohammed V, Rabat, MAR.
Aceruloplasminemia (ACP) is a rare genetic disorder that manifests in adulthood due to mutations in the CP (ceruloplasmin) gene, causing iron accumulation and neurodegeneration. Clinically, ACP presents with a range of symptoms, including mild microcytic anemia, diabetes mellitus, liver disease, retinopathy, progressive neurological symptoms such as cerebellar ataxia, involuntary movements, parkinsonism, mood and behavior disorders, and cognitive impairment. We present the case of a 53-year-old female with a history of first-degree consanguinity and a sister with anemia.
View Article and Find Full Text PDFAceruloplasminemia exhibits typical MRI findings.
Acta Neurol Belg
June 2023
Clinic of Neurology, Prof. Dr. Cemil Taşçıoğlu City Hospital, University of Health Sciences Turkey, Istanbul, Turkey.
A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report.
Front Neurosci
May 2022
Département de Médecine Interne et Centre de Référence Mucoviscidose, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Pierre-Bénite, France.
Aceruloplasminemia is a rare autosomal recessive inherited disorder. Mutations in the ceruloplasmin gene cause depressed ferroxidase activity leading to iron accumulation. The clinical phenotype is highly variable: anemia, retinopathy, diabetes mellitus, psychiatric disorders, and neurological symptoms including parkinsonian disorders and dementia are the main features of this disease.
View Article and Find Full Text PDFMolecular Functions of Ceruloplasmin in Metabolic Disease Pathology.
Diabetes Metab Syndr Obes
March 2022
Institute of Digestive Diseases, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 200032, People's Republic of China.
Ceruloplasmin (CP) is a multicopper oxidase and antioxidant that is mainly produced in the liver. CP not only plays a crucial role in the metabolic balance of copper and iron through its oxidase function but also exhibits antioxidant activity. In addition, CP is an acute-phase protein.
View Article and Find Full Text PDFDifferent cortical excitability profiles in hereditary brain iron and copper accumulation.
Neurol Sci
March 2020
Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.
Background And Aim: Neurodegeneration with brain iron accumulation (NBIA) and Wilson's disease (WD) is considered the prototype of neurodegenerative disorders characterised by the overloading of iron and copper in the central nervous system. Growing evidence has unveiled the involvement of these metals in brain cortical neurotransmission. Aim of this study was to assess cortical excitability profile due to copper and iron overload.
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