Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of the colony stimulating factor 1 receptor gene (CSF1R) in a large Chinese family affected with hereditary diffuse leukoencephalopathy with spheroids (HDLS) and analyze the genotype-phenotype correlation.</p><p><b>METHODS</b>The proband was evaluated physically and radiologically to ascertain the HDLS phenotype. Genomic DNA was extracted from peripheral blood samples from family members. The coding region of the CSF1R gene was amplified with PCR and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>There were 9 affected members (5 alive) in this five-generation family (1 member had died during the follow-up). A missense mutation c.2563C>A (p.P855T) of the CSF1R gene has been identified in the proband. The same mutation was identified in 3 affected and 1 unaffected members of the family.</p><p><b>CONCLUSION</b>The family was consistent with autosomal dominant inheritance. CSF1R gene mutation is also a disease-causing mutation in Chinese patients.</p>

Establishment of an allele-specific PCR method for direct screening of CYP21A2 gene mutation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish an allele-specific PCR method for detect screening of CYP21A2 gene mutation.</p><p><b>METHODS</b>Allele-specific PCR primers and analogy primers were designed based on the sequence alignment of CYP21A2 and CYP21AP genes. Genomic DNA was extracted from blood specimens of 4 patients with 21-hydroxylase deficiency and 5 healthy controls and respectively amplified with allele-specific PCR primers and analogy primers and sequenced.</p><p><b>RESULTS</b>Mutations of CYP21A2 including IVS2-13A/C>G, Arg356Trp and Arg149Pro were found with the established method in all of the 4 patients but not in the healthy controls. When detected with the analogy primers set, IVS2-13A/C>G and Arg356Trp were observed in both patients and healthy controls.</p><p><b>CONCLUSION</b>The allele-specific PCR-based method is a simple, effective and reliable method for the detection of CYP21A2 gene mutation.</p>

Relation between onset age and the motor complications involved in Parkinson' s disease / 中华神经科杂志

Objective To observe the relation between onset age and the motor complications involved Parkinaon' s disease (PD).Methods The detailed clinical information of 195 patients with idiopathic PD and good response to L-dopa were recorded and followed up.The data were calculated with SPSS statistic software.Results Although the time interval between the onset of the disease and the use of L-dopa was significantly longer in the 57 early-onset patients as compared to the 138 later-onset ones ((3.88±3.33) years vs (2.36±2.21) years, t = 3.142, P = 0.002), the time interval between the use of L-dopa and the occurrence of motor complications was not significantly longer in the early-onset group ((3.81±2.06) years vs (4.24±2.00) years, t = -0.888, P = 0.378).There was no difference in the constituent ratio of non-L-dopa use from onset between early-onset and later-onset PD groups (28.07% (16/57) vs 27.54% (38/138), χ2 = 0.006, P = 0.940).There was also no difference in the dosage of daily L-dopa use when motor complications occurred between early-onset and later-onset PD groups ((601.8± 296.7) mgvs (655.6±192.5) mg, t = -0.912, P=0.365).Seven-tenths of the patients with an onset age younger than 40 years old carried the risk of motor complications after using L-dopa for 5-years and those older than 70 years had the risk at a rate of 1/10.Conclusions Delaying the of use of L-dopa may not necessarily delay the onset of motor complications.The high incidence of motor complications among younger patients may not be related with drug dosage and the type of drug firstly chosen.Younger onset age does inerease the ineidence of motor complicatious.