Clinical， imaging， and genetic features of aceruloplasminemia caused by a novel c.1944C>G mutation in the ceruloplasmin gene： A case report and literature review
10.19845/j.cnki.zfysjjbzz.2026.0043
- VernacularTitle:CP基因c.1944C>G新突变致血浆铜蓝蛋白缺乏症的临床、影像与遗传学特征分析并文献复习
- Author:
Quan SUN
1
;
Renmin YANG
1
Author Information
1. Affiliated Hospital of Neurology Institute， Anhui University of Chinese Medicine， Hefei 230001， China
- Publication Type:Journal Article
- Keywords:
Ceruloplasmin;
Iron deposition;
Ataxia;
Cognitive impairment
- MeSH:
Ceruloplasmin
- From:
Journal of Apoplexy and Nervous Diseases
2026;43(3):248-253
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical features and key diagnostic points of aceruloplasminemia （ACP）， as well as the features of a novel pathogenic mutation. Methods A systematic analysis was performed for the clinical data of one patient with a confirmed diagnosis of ACP， and a literature review was performed based on related articles in China and globally. Results Based on the clinical features of this patient and the analysis of the family， it was clarified that the homozygous c.1944C>G （p.Ser648Arg） mutation in the Ceruloplasmin （CP） gene could cause ACP and was reported for the first time worldwide. Conclusion ACP is an extremely rare autosomal recessive disease due to abnormal iron metabolism caused by a significant reduction in ceruloplasmin， with the main clinical manifestations of retinopathy， diabetes， ataxia， and cognitive impairment， and genetic testing of the CPgene has a relatively high diagnostic value.
