ABSTRACT
Genetic factors are considered to play a critical role in patients with early-onset Parkinson's disease (EOPD). The genetic spectrum of EOPD patients has been extensively investigated in Caucasian populations but rarely in the Chinese population. In this study, a total of 21 unrelated Chinese EOPD patients were enrolled. Multiplex ligation-dependent probe amplification assay and whole-exome sequencing were performed, followed by Sanger sequencing. Detailed clinical features were presented. Two novel likely pathogenic variants (p.Q648X in ATP13A2 and p.N521fs in PINK1) and 10 previously reported Parkin pathogenic variations (exon 2 deletion, exon 3-4 deletion, exon 4 deletion, exon 6-7 deletion, exon 7 deletion; p.G284R, p.G329 V, p.R366W, p.N428fs, p.M458 L) were identified in 9 out of 21 (42.86%) patients. The frequency (33.33%) of Parkin variations is much higher in our cohort than that in the East Asian population. The patient carrying the ATP13A2 variant showed no response to levodopa treatment. Our findings broaden the genetic spectrum and clinical features of EOPD patients.
Subject(s)
Genetic Predisposition to Disease/genetics , Parkinson Disease/genetics , Protein Kinases/genetics , Proton-Translocating ATPases/genetics , Adolescent , Adult , Age of Onset , Asian People/genetics , Female , Humans , Male , Pedigree , Exome Sequencing , Young AdultABSTRACT
The aim of this study was to evaluate the clinical and radiographic results of cementless acetabular revision with deep frozen morsellised allografts. Sixty-one patients (65 hips) underwent acetabular revision using cementless components and deep frozen morsellised allografts. Fifty-seven hips (53 patients) were reviewed at a mean of 105.1 months (range 72-180 months) after revision. The study group included 29 males and 24 females with a mean age of 46.4 years. One cup underwent further revision for aseptic loosening and two were defined as radiographic failures. The mean time for allograft incorporation was 12.5 months (range 6-24 months) after index surgery. The mean Harris hip score of the patients improved from 61.1 points preoperatively to 91.6 points postoperatively. Linear and cavitary osteolysis was observed in two and 12 hips, respectively. The acetabular revision using cementless components with deep frozen morsellized allografts provides favourable clinical and radiographic results, although the initial disease and age may adversely affect the outcomes.
