Research progress on the study of aceruloplasminemia
Journal Title: Chinese Journal of Nervous and Mental Diseases - Year 2024, Vol 50, Issue 5
Abstract
Aceruloplasminemia (ACP) is a rare, adult-onset autosomal recessive disorder characterized by ceruloplasmin (CP) deficiency and iron metabolism disorders, with typical clinical manifestations of the triad of "neurological symptoms, diabetes, and retinopathy". Cranial MRI shows widely symmetrical T2-weighted imaging (T2WI) hypointensity in the basal ganglia, thalamus, dentate nucleus, and cortex. The diagnosis of ACP depends on genetic testing. Iron chelators were the main treatment, and some patients had unsatisfactory improvement in neurological symptoms. Clinicians should improve the recognition of ACP. Early diagnosis and treatment are helpful for the recovery of the disease.
Authors and Affiliations
Yayun XU, Mingjuan FANG, Gongqiang. WANG
Keywords
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- EP ID EP750501
- DOI 10.3969/j.issn.1002-0152.2024.05.009
- Views 59
- Downloads 0
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