BACKGROUND Recent studies suggest that GTP cyclohydrolase 1 (GCH-1) variant may be a risk factor for nigral degeneration causing PD. METHODS A 49-year-old Korean woman visited our movement disorder clinic with the initial presentation of Parkinsonism starting at age 47. We monitored the degree of nigral degeneration with serial FP-CIT PET throughout the course of her disease (2, 8 and 11 years from disease onset). RESULTS The initial clinical presentation was consistent with intrinsic dopamine deficiency caused by GCH-1 variant. However, her follow-up disease course was consistent with Parkinsonism caused by nigral neurodegeneration. We found a novel GCH-1 variant in the current case. The disease course of the patient was overall benign in motor and non-motor aspects, corresponding to previously reported GCH-1 cases with PD. Serial FP-CIT PET scans showed normal initial FP-CIT binding followed by a continuous decline of the putaminal binding ratio. However, the decreased binding ratio could not sufficiently explain the corresponding clinical duration of the patient. Therefore, dopamine deficiency by GCH-1 genetic variant contributed to Parkinsonism in the current case with subclinical nigral degeneration. CONCLUSION Our case suggests that GCH-1 variant causes Parkinsonism by unmasking the subclinical nigral pathology, not by causing the nigral neurodegeneration.OBJECTIVE This study aimed to analyze the association of autonomic dysfunction with cognition, depression, apathy, and fatigue in Lewy body disease (LBD). Lanifibranor mw METHODS We included 61 patients [49 with idiopathic Parkinson's disease, 7 with dementia with Lewy bodies, and 5 E46K-SNCA mutation carriers] and 22 healthy controls. All participants underwent a comprehensive battery of neuropsychological and clinical measures, autonomic symptom assessment with the SCOPA-AUT, analysis of non-invasive hemodynamic parameters during deep breathing, the Valsalva maneuver, and a 20-min tilt test, and electrochemical skin conductance measurement at rest (Sudoscan). Student's t tests were used to assess group differences, and bivariate correlations and stepwise linear regressions to explore associations between autonomic function, cognition, depression, apathy, and fatigue. RESULTS Compared to controls, patients who had significant impairment (p  less then  0.05) in cognition, higher depression, apathy, and fatigue, more autonomic symptoms and objective autonomic dysfunction, reduced deep breathing heart rate variability [expiratory-to-inspiratory (E/I) ratio], prolonged pressure recovery time, and lower blood pressure in Valsalva late phase II and phase IV, while 24.1% had orthostatic hypotension in the tilt test. Autonomic parameters significantly correlated with cognitive and neuropsychiatric outcomes, systolic blood pressure during the Valsalva maneuver predicting apathy and depression. The E/I ratio was the main predictor of cognitive performance (17.6% for verbal fluency to 32.8% for visual memory). CONCLUSION Cardiovascular autonomic dysfunction is associated with cognitive and neuropsychiatric impairment in LBD, heart rate variability during deep breathing and systolic blood pressure changes during the Valsalva procedure are the main predictors of neuropsychological performance and depression/apathy symptoms, respectively.PURPOSE We compared high- and low-intensity eccentric cycling (ECC) with the same mechanical work for changes in muscle function and muscle soreness, and examined the changes after subsequent high-intensity ECC. METHODS Twenty men performed either high-intensity ECC (1 min × 5 at 20% of peak power output PPO) for two bouts separated by 2 weeks (H-H, n = 11), or low-intensity (4 min × 5 at 5% PPO) for the first and high-intensity ECC for the second bout (L-H, n = 9). Changes in indirect muscle damage markers were compared between groups and bouts. RESULTS At 24 h after the first bout, both groups showed similar decreases in maximal isometric (70° knee angle,  - 10.6 ± 11.8%) and isokinetic ( - 11.0 ± 8.2%) contraction torque of the knee extensors (KE), squat ( - 7.7 ± 10.4%) and counter-movement jump ( - 5.9 ± 8.4%) heights (p  less then  0.05). Changes in KE torque and jump height were smaller after the second than the first bout for both the groups (p  less then  0.05). Increases in plasma creatine kinase activity were small, and no significant changes in vastus lateralis or intermedius thickness nor ultrasound echo-intensity were observed. KE soreness with palpation was greater (p  less then  0.01) in H-H (peak 4.2 ± 1.0) than L-H (1.4 ± 0.6) after the first bout, but greater in L-H (3.6 ± 0.9) than H-H (1.5 ± 0.5) after the second bout. This was also found for muscle soreness with squat, KE stretch and gluteal palpation. CONCLUSION The high- and low-intensity ECC with matched mechanical work induced similar decreases in muscle function, but DOMS was greater after high-intensity ECC, which may be due to greater extracellular matrix damage and inflammation.One of the co-authors, Raffy Dotan, wishes to remove his name from the original version of this article. The corrected author group should be.PURPOSE Cancer is of increasing prevalence in less-developed countries. However, research on the patients' quality of life (QoL) in these countries is very limited. The aim of this study was to examine QoL of cancer patients in Africa. METHOD A sample of 256 cancer patients treated in an Ethiopian hospital was examined with the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire EORTC QLQ-C30, the Multidimensional Fatigue Inventory, and the Hospital Anxiety and Depression Scale. A group of 1664 German cancer patients served as a comparison group. RESULTS Most of the scales of the EORTC QLQ-C30 showed acceptable reliability in the Ethiopian sample. Compared with the German cancer patients, the Ethiopian patients showed lower QoL in most dimensions, especially in financial difficulties, physical functioning, pain, and appetite loss (effect sizes between 0.52 and 0.75). Illiteracy, tumor stage, and treatment (surgery and chemotherapy) were associated with QoL in the Ethiopian sample.