Clinical features and genetic analysis of a Chinese pedigree affected with X-linked adrenoleukodystrophy / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy.@*METHODS@#Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals.@*RESULTS@#The prominent features of the proband included cerebellar and brainstem lesions, along with increased serum level of very-long chain fatty acids. He was found to harbor a hemizygous c.1509delG (p.L504Sfs*54) variant of the ABCD1 gene, for which his mother was heterozygous. The same variant was not detected in his father and 100 healthy controls.@*CONCLUSION@#X-linked adrenoleukodystrophy has a variety of clinical manifestations. Discovery of the c.1509delG (p.L504Sfs*54), as a novel pathogenic variant of the ABCD1 gene, has enabled diagnosis and genetic counseling for this pedigree.

Clinical study on biochemical levels in patients with Parkinson's disease / 实用医学杂志

Objective To analyze the relationship between biochemical level and severity levels and clinical,duration of disease in patients with Parkinson Disease (PD).Methods 69 patients with PD and 69 healthy persons of similar sex and age were selected in the research.Serum uric acid and lipids levels were examined and compared.Results The serum uric acid,triglycerides,total cholesterol and low-density lipoprotein cholesterol (LDL-C) were (322.48 ± 66.18) μmol/L,(1.22 ± 0.86) mmol/L,(4.70 ± 0.92) mmol/L and (3.00 ± 0.85) mmol/L in control group,and (384.23 ± 88.28) μmol/L、(1.64 ± 0.94) mmol/L、(5.37 ± 1.31) mmol/L、(3.53 ± 1.03) mmol/L in control group.The differences are significant (t =-4.68,P =0.000;t =-2.74,P =0.007;t =-2.74,P =0.007;t =-3.49,P =0.001;t =-3.27,P =0.001).Serum UA concentration and high-density lipoprotein cholesterol (HDL-C),LDL-C were lower in patients with Parkinson's disease in duration of disease more than 3 years than those in duration of disease less than 3 years (t =3.373,P =0.001;t =2.440,P =0.017).The serum UA levels of any stages of PD patients were lower than the control group (P ＜ 0.05) according to Hoehn-Yahr staging.All lipid levels in early and middle stage PD disease patients were lower than those in control group (P ＜ 0.05).Serum UA,total cholesterol and HDL-C in female PD patients were (305.69 ± 54.25) μmol/L,(4.99 ± 0.95) mmol/L,(1.25 ± 0.27) mmol/L,and (339.76 ± 73.40) μmol/L,(4.41 ± 0.81) mmol/L,(1.06 ± 0.19) mmol/L in male patients.The difference is significant (t =2.198,P =0.031;t =-2.721,P =0.008;t =-3.266,P =0.002).Multivariate logistic regression models assessed lower uric acid concentrations is the risk of PD (OR =1.01,95％ CI 1.004 ～ 1.015,P =0.001).Conclusion Biochemical level changed differently in Parkinson disease and uric acid reduction could be a risk factor for PD.