Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency. Loss-of-function mutations in KAL1 and FGFR1 underlie the X chromosome-linked form and an autosomal dominant form of the disease, respectively. Mutations in these genes, however, only account for approximately 20% of all Kallmann syndrome cases. In a cohort of 192 patients we took a candidate gene strategy and identified ten and four different point mutations in the genes encoding the G proteincoupled prokineticin receptor-2 (PROKR2) and one of its ligands, prokineticin-2 (PROK2), respectively. The mutations in PROK2 were detected in the heterozygous state, whereas PROKR2 mutations were found in the heterozygous, homozygous, or compound heterozygous state. In addition, one of the patients heterozygous for a PROKR2 mutation was also carrying a missense mutation in KAL1, thus indicating a possible digenic inheritance of the disease in this individual. These findings reveal that insufficient prokineticin-signaling through PROKR2 leads to abnormal development of the olfactory system and reproductive axis in man. They also shed new light on the complex genetic transmission of Kallmann syndrome.

The influence of bilateral practice on the modification of well-established lateral asymmetries of performance was investigated in overlearned motor skills related to soccer in 12- to 14-year-old adolescent players. The participants had extensive practice before entering the experiment and were trained 2 hours per day, five times per week, during a period of 4 months. In the training, the participants were assigned to one of two groups: practice with emphasis on the preferred leg (PL), or practice with emphasis on the nonpreferred leg (NpL). Lateral asymmetries of performance were assessed before and after training on three motor tasks: kicking for force, kicking for accuracy, and speed of dribbling. The analysis of the results indicated a consistent asymmetry of performance throughout the tests, favouring the preferred leg. The asymmetry of performance was maintained at a constant level across the tests for the kicking tasks in both experimental groups. For speed of dribbling, however, the index of lateral asymmetry was reduced from the pre- to the post-test in the NpL group only, which was due to a higher rate of improvement with the nonpreferred leg after the experimental training. These results are indicative of the role played by bilateral practice in modifying lateral asymmetries of performance established as a consequence of previous unilateral training.

Background Exercises with motor complexity induce neuroplasticity in individuals with Parkinson's disease (PD), but its effects on freezing of gait are unknown. The objective of this study was to verify if adapted resistance training with instability — exercises with motor complexity will be more effective than traditional motor rehabilitation — exercises without motor complexity in improving freezing‐of‐gait severity, outcomes linked to freezing of gait, and brain function. Methods Freezers were randomized either to the adapted resistance training with instability group (n = 17) or to the active control group (traditional motor rehabilitation, n = 15). Both training groups performed exercises 3 times a week for 12 weeks. The primary outcome was the New Freezing of Gait Questionnaire. Secondary outcomes were freezing of gait ratio (turning task), cognitive inhibition (Stroop‐III test), motor signs (Unified Parkinson's Disease Rating Scale part‐III [UPDRS‐III]), quality of life (PD Questionnaire 39), anticipatory postural adjustment (leg‐lifting task) and brain activation during a functional magnetic resonance imaging protocol of simulated anticipatory postural adjustment task. Outcomes were evaluated before and after interventions. Results Only adapted resistance training with instability improved all the outcomes (P < 0.05). Adapted resistance training with instability was more effective than traditional motor rehabilitation (in improving freezing‐of‐gait ratio, motor signs, quality of life, anticipatory postural adjustment amplitude, and brain activation; P < 0.05). Our results are clinically relevant because improvement in the New Freezing of Gait Questionnaire (−4.4 points) and UPDRS‐III (−7.4 points) scores exceeded the minimally detectable change (traditional motor rehabilitation group data) and the moderate clinically important difference suggested for PD, respectively. The changes in mesencephalic locomotor region activation and in anticipatory postural adjustment amplitude explained the changes in New Freezing of Gait Questionnaire scores and in freezing‐of‐gait ratio following adapted resistance training with instability, respectively. Conclusions Adapted resistance training with instability is able to cause significant clinical improvement and brain plasticity in freezers. © 2020 International Parkinson and Movement Disorder Society

No abstract

To examine the effect of long lasting practice on pedal behavior in sport, we compared experienced adult soccer players and nonsoccer players on leg preference in motor tasks requiring general mobilization, soccer related mobilization, and body balance stabilization. We also evaluated performance asymmetry between the right and left legs in static and dynamic unipedal body balance, based on center of pressure displacement, and correlated that with leg preference in balance stabilization tasks. Results revealed (a) a distinct leg preference between mobilization and stabilization tasks, which were significantly different between players and nonplayers, (b) similar balance stability between the right and left legs, (c) greater stability of experienced players compared with nonplayers in static and dynamic balance, and (d) absence of a significant leg preference correlation with interlateral balance asymmetry. These results suggest an effect of extensive soccer skill practice on establishing leg preference for specific mobilization tasks and overall balance control.

No abstract

Knowledge of brain correlates of postural control is limited by the technical difficulties in performing controlled experiments with currently available neuroimaging methods. Here we present a system that allows the measurement of anticipatory postural adjustment of human legs to be synchronized with the acquisition of functional magnetic resonance imaging data. The device is composed of Magnetic Resonance Imaging (MRI) compatible force sensors able to measure the level of force applied by both feet. We tested the device in a group of healthy young subjects and a group of elderly subjects with Parkinson’s disease using an event-related functional MRI (fMRI) experiment design. In both groups the postural behavior inside the magnetic resonance was correlated to the behavior during gait initiation outside the scanner. The system did not produce noticeable imaging artifacts in the data. Healthy young people showed brain activation patterns coherent with movement planning. Parkinson’s disease patients demonstrated an altered pattern of activation within the motor circuitry. We concluded that this force measurement system is able to index both normal and abnormal preparation for gait initiation within an fMRI experiment.

No abstract