The PLA2G6 gene in early-onset Parkinson's disease.

BACKGROUND: The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium-independent group VI phospholipase A(2) (iPLA(2)-VI) in the pathogenesis of PD has been proposed. METHODS: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA(2)-VI in a group of 102 discordant pairs with early-onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls. RESULTS: The nonsynonymous single-nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L-dopa-responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases. CONCLUSIONS: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene.

Breakdance injuries and overuse syndromes in amateurs and professionals.

BACKGROUND: Serious injuries due to breakdancing have been presented only as singular case reports to date. So far, there have been no comprehensive studies about injuries in this sport. HYPOTHESIS: Professional breakdancing might lead to a higher incidence of injuries than amateur training. Wearing safety equipment is correlated with a decreased incidence of injuries and pain. STUDY DESIGN: Descriptive epidemiology study. METHODS: The retrospective study surveyed 40 breakdance professionals and 104 amateurs by questionnaire. RESULTS: There were 1665 injuries and 206 overuse syndromes found in 380 588 hours of training, leading to a loss of 10 970.6 training days. Professionals reported significantly (P < .001) more injuries and overuse syndromes with significantly more injuries of the wrist (P < .001), knee (P < .001), hip/thigh (P = .003), ankle/foot (P = .013), and elbow (P = .033). No significant differences were found in the time lost per injury and the time lost per overuse syndrome. Pain occurred most frequently in the region of the wrist, spine, shoulder, and ankle. A negative correlation between protective gear and injuries or frequency of pain could not be shown. CONCLUSION: Breakdancing must be considered as a potentially high-risk dancing sport. Even with severe injuries, dancers interrupt training only for limited periods of time. CLINICAL RELEVANCE: Breakdance injuries and overuse should not be underestimated. Physicians should be aware of the common risks in this highly acrobatic kind of dancing.