Hypoceruloplasminemia‐related movement disorder without Kayser‐Fleischer rings is different from Wilson disease and not involved in ATP7B mutation

Li-rong, Jia; Jia, Jianjun; Hua, Zhixiang; Fu, Guangmiao; Yu-hao, Zheng; Pan, Xiaoli; Zhang, Xiaomin; Yu-wen, Zhou; Yu, Mi; Chen, Jie; Ji-hong, Duan; Yueshi, M.; Zhen-yao, MA; Chunjiu, Zhong

doi:10.1111/j.1468-1331.2009.02733.x

Cited by 16 publications

(8 citation statements)

References 24 publications

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“…Previous studies from our group and others also demonstrated that decreased serum CP levels are associated with movement disorders, including PD, by disturbing brain iron metabolism [14,15,17,23] . However, less is known about the cause of low serum CP levels in PD patients.…”

Section: No Copy Number Variations Of the Cp Gene In Pd Patientssupporting

confidence: 54%

Single-nucleotide polymorphisms and haplotypes of non-coding area in the CP gene are correlated with Parkinson’s disease

et al. 2015

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Our previous studies have demonstrated that ceruloplasmin (CP) dysmetabolism is correlated with Parkinson's disease (PD). However, the causes of decreased serum CP levels in PD patients remain to be clarified. This study aimed to explore the potential association between genetic variants of the CP gene and PD. Clinical features, serum CP levels, and the CP gene (both promoter and coding regions) were analyzed in 60 PD patients and 50 controls. A luciferase reporter system was used to investigate the function of promoter single-nucleotide polymorphisms (SNPs). High-density comparative genomic hybridization microarrays were also used to detect large-scale copy-number variations in CP and an additional 47 genes involved in PD and/or copper/ iron metabolism. The frequencies of eight SNPs (one intronic SNP and seven promoter SNPs of the CP gene) and their haplotypes were signifi cantly different between PD patients, especially those with lowered serum CP levels, and controls. However, the luciferase reporter system revealed no signifi cant effect of the risk haplotype on promoter activity of the CP gene. Neither these SNPs nor their haplotypes were correlated with the Hoehn and Yahr staging of PD. The results of this study suggest that common genetic variants of CP are associated with PD and further investigation is needed to explore their functions in PD.

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Section: No Copy Number Variations Of the Cp Gene In Pd Patientssupporting

confidence: 54%

Single-nucleotide polymorphisms and haplotypes of non-coding area in the CP gene are correlated with Parkinson’s disease

et al. 2015

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“…This hypothesis suggests the importance of the relationship between ATP7B and CP. However, in our previous study, we did not detect any significant mutations in the exons and promoter of the ATP7B gene in PD patients with low serum CP level [15].…”

Section: Introductionmentioning

confidence: 92%

Serum microRNA-133b is associated with low ceruloplasmin levels in Parkinson's disease

Zhao

Jin

Fei

et al. 2014

Parkinsonism & Related Disorders

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“…Therefore, the metabolism of iron in the brain is closely related to CP. Lower CP level in patients with movement disorders including PD was reported (Lirong et al., ). Further studies showed significant iron deposition in the substantia nigra of PD patients, and the iron content of other brain regions and the healthy control group revealed no significant difference.…”

Section: Introductionmentioning

confidence: 91%

Ceruloplasmin in Parkinson's disease and the nonmotor symptoms

et al. 2018

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ObjectivesTo investigate the relationship between ceruloplasmin (CP) and Parkinson's disease (PD), and the correlation between CP level and the time difference between nonmotor symptoms and motor symptoms and the diagnosis were also mentioned.Materials and MethodsSixty‐six patients diagnosed with PD for the first time were included in the study. They were divided into CP reduction group (31 cases) and CP normal group (35 cases) according to their CP level. The estimated time difference between nonmotor symptoms and motor symptoms and the diagnosis were recorded respectively. The magnetic sensitive nigra phase value was measured by susceptibility weighted imaging (SWI).ResultsCeruloplasmin level was middling correlated with age (r = .561, p < .001). There was strong negative correlation between CP level and UPDRS scores (r = −.727, p < .001). The CP level was significantly correlated with the magnetic sensitive nigra phase value (r = .891, p < .001). CP level showed moderate correlation with the time difference from nonmotor symptoms to motor symptoms (r = .559, p < .001), besides, the time difference between nonmotor symptoms and the diagnosis (r = .525, p < .001) and CP level was also moderately related.ConclusionsCeruloplasmin interference in iron metabolism was closely related with PD development. And there were slight corrections between CP level and the time difference from nonmotor symptoms to motor symptoms or the diagnosis.

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Hypoceruloplasminemia‐related movement disorder without Kayser‐Fleischer rings is different from Wilson disease and not involved in ATP7B mutation

Abstract: Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings, which exhibits mild low serum CP and a long-term stability of disease course, is different from WD and not associated with ATP7B gene mutation. Further investigation of molecular biology should be encouraged.

Cited by 16 publications

References 24 publications

Single-nucleotide polymorphisms and haplotypes of non-coding area in the CP gene are correlated with Parkinson’s disease

Single-nucleotide polymorphisms and haplotypes of non-coding area in the CP gene are correlated with Parkinson’s disease

Serum microRNA-133b is associated with low ceruloplasmin levels in Parkinson's disease

Ceruloplasmin in Parkinson's disease and the nonmotor symptoms

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