Frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant condition clinically characterized by behavioral, cognitive and motor disturbances. It was recently discovered that the majority of the FTDP-17 families carry missense or 5' splice mutations in the exons coding for the microtubule-binding domains of the tau protein. However, in at least five FTDP-17 families, no such mutations could be identified. In the present study, we aimed at further investigate abnormalities in the tau gene in a Swedish FTDP-17 family, where no mutations in the tau gene previously have been identified. Initially, we searched for larger deletions by Southern blot hybridization. Furthermore, possible abnormal splicing events was investigated by RT-PCR from brain tissue of affected individuals. In addition, we investigated the presence of mutations in other genes in the FTDP-17 candidate region on chromosome 17q21; Gamma-tubulin, Glial Fibrillary Acid Protein (GFAP), Human dual specificity phosphatase tyrosine/serine (VHR), Rap-interacting protein 8 (RPIP8), P35, and the recently identified FTDCG1. In conclusion, no pathological changes in the tau gene were observed, neither was any mutations segregating with the disease detected in the investigated candidate genes. Further investigation of extended intron sequences or promoter regions of the tau gene and additional candidate genes on chromosome 17q21, therefore seems to be necessary in order to identify the additional causes of FTDP-17.
ObjectivesTo assess the association between inflammatory lung disease and the risk of developing idiopathic inflammatory myopathies.MethodsA population-based case–control study was conducted. Adult myositis cases, identified from the Swedish inpatient registry (diagnosed between 1995 and 1997), and randomly selected controls matched to cases on the date of birth, gender and residency, were asked to fill out a questionnaire with questions on lifestyle, environmental exposures and health. Eventually, 100 cases and 402 controls responded to the questionnaire and were included in the analyses. Exposure was defined as self-reported preceding inflammatory lung diseases (pneumonia, tuberculosis or sarcoidosis). The association between the exposure and risk of developing myositis was evaluated by calculating OR together with 95% CIs in logistic regressions.Results42 (42%) cases and 112 (28%) controls reported preceding inflammatory lung disease. Median duration between inflammatory lung disease and first symptom of myositis was 30 years. We observed a significant association between self-reported history of lung disease at study inclusion and diagnosis of myositis (crude OR=1.8 (1.1 to 2.9); smoking adjusted OR=1.9 (1.2 to 3.1)). We further identified a modestly increased, yet non-significant, association between preceding inflammatory lung disease (prior to index year) and diagnosis of myositis (smoking adjusted OR=1.6 (0.9 to 2.8)). The association was more pronounced among the cases of myositis with concurrent interstitial lung disease (OR=3.8 (1.0 to 14.5)).ConclusionsPatients with preceding inflammatory lung disease tend to have an increased risk of developing myositis compared to those without. The effect was more pronounced among patients with myositis with concurrent interstitial lung disease. Thus inflammatory lung disease may constitute a risk factor for myositis.
Background Although the etiology of inflammatory myopathies is unclear, there are data indicating that myositis occurs as a result of complex interactions between genes and environmental/life style factors. Objectives To assess the association between lung disease and the risk of developing inflammatory myopathies, myositis. Methods In this population-based case-control study, 179 incident adult myositis cases diagnosed between 1995 and 1997 were identified from the Swedish inpatient registry. Verification of diagnosis was performed through patient records. The analysis was based on responses from a questionnaire on exposures to environmental factors from 100 cases that were alive and fulfilled the inclusion criteria and from 402 randomly selected population controls matched to cases on birth of date, gender and residency. Exposure was based upon self-reports of preceding inflammatory lung disease (pneumonia, tuberculosis or sarcoidosis). The association between inflammatory lung disease and risk of developing myositis was evaluated by calculating odds ratio (OR) together with 95% confidence interval (CI) by means of logistic regression. Results There was an association between preceding inflammatory lung disease and diagnosis of myositis: adjusted OR 1.5, 95% CI 0.9-2.6. The median duration between the lung disease and first symptom of myositis was 30 years. Conclusions Subjects with preceding inflammatory lung disease had an increased risk of developing myositis compared to those without such disease. Inflammatory lung disease could thus be a potential risk factor for onset of inflammatory myopathies, myositis, or a parallel phenomenon. Disclosure of Interest None Declared
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