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The aim of this study AZD9291 clinical trial was to assess the clinical characteristics of GBA mutation carriers in Polish PD patients. All PD patients hospitalized in the Department of Neurology, University Hospital, in Krakow between 2007 and 2011 year were invited to participate in this study. The diagnosis of PD was made by movement disorder specialist (MR) according to the UK Parkinson's Disease Brain Bank Clinical Diagnostic Criteria [8]. Patients with history of other neurologic, psychiatric or severe systemic disorders, as well as heavy metals intoxication or exposure to the toxic substances, were excluded from the study. Each subject signed the consent form. The study was approved by the Local Ethics Committee (KBET/54/B/2007). The severity of parkinsonism was assessed using the Unified Parkinson Disease Rating Scale (UPDRS), including Hoehn and Yahr (H&Y) staging. TD and PIGD subtypes of PD were differentiated according to the method proposed by Jankovic et al. [9] using coefficients calculated from the scores of parts II and III of UPDRS. Cognitive functions were assessed using Mini Mental State Examination (MMSE). Patients scored?Tryptophan synthase amplification of the GBA pseudogene [7]. The sequencing was performed in the Laboratory of Molecular Genetics, Department of Medical Genetics, Polish-American Institute of Pediatrics, Jagiellonian University. Statistical analyses included Student t-test, Mann�CWhitney U-test for non-parametric statistic and ��2 test. One hundred and thirty-eight ZD1839 datasheet PD patients (mean age: 57.8 years, 70 females) were recruited for the study. The clinical characteristics of PD patients are summarized in the Table 1. The polymorphisms of GBA gene were detected in 16 (11.6%) patients. Genetic variants included N370S mutation in 5 (3.6%) and SNP c.1223C>T (rs75548401, T369M) in 11 patients (7.9%). L444P mutation was not found in any patient. Patients with N370S mutation did not differ from others in relation to sex (male/female: 2/3 vs. 60/61, respectively) or mean age (70.3 vs. 72.0 years, respectively). N370S carriers did not differ from others in the mean age of disease onset and in the majority of clinical findings including mean MMSE score, except the number of patients with cognitive impairment (Table 2). The number of patients with MMSE score?