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Introduction adult-onset autosomal dominant leukodystrophy (ADLD) is a rare inherited disorder due to a duplication of lamin-B1 (LMNB1) gene. The aim of this study was to investigate brain metabolic and microstructural alterations by using advanced MR techniques. Methods we performed brain MR scans including single-voxel proton-MR Spectroscopy ( 1 H-MRS) of the lateral ventricles and parietal white matter and diffusion tensor imaging (DTI) in 4 subjects with LMNB1 gene duplication, 6 non-mutated relatives and 7 unrelated healthy controls. Cervical and thoracic spinal cord MR was performed in three symptomatic subjects with LMNB1 mutation. All participants underwent clinical and neuropsychological evaluation. Results all subjects with LMNB1 gene duplication presented pathological accumulation of lactate in lateral ventricles CSF and no alterations of brain white matter absolute metabolites concentrations or metabolites/Cr ratios. We found increased white matter intra- and extracellular water transverse relaxation times. Tract-based spatial statistics analysis detected a significantly reduced fractional anisotropy in the genu of the corpus callosum in mutated cases compared to unrelated healthy controls and non-mutated relatives. Moreover, we detected different degrees of the typical white matter signal intensity alterations and brain and spinal atrophy at conventional MRI in symptomatic subjects with LMNB1 mutation. A mild impairment of executive functions was found in subjects with LMNB1 gene mutation. Conclusion in subjects with LMNB1 gene duplication, we found a pathological increase in CSF lactate, likely due to active demyelination along with glial activation, and microstructural changes in the genu of the corpus callosum possibly underpinning the mild neuropsychological deficits.

The imbalance between vastus medialis oblique (VMO) and vastus lateralis (VL) is one of the mean factor for (PFPS) onset, related to improper alignment of the patella. PURPOSE: The aim of this study is to investigate the effects of knee flexion, knee rotation and ankle flexion attitudes on the activity of the VMO and VL muscles during unilateral maximal voluntary isometric contraction (MIVC) of the quadriceps femoris. METHODS: Ten healthy subjects volunteered for the study. Five conditions for two different knee flexion angles (90°; 30°) were tested: neutral condition, maximal knee medial rotation, maximal knee lateral rotation, maximal ankle plantarflexion and maximal ankle dorsiflexion. Data were normalized in order to calculate the normalized VMO/VL ratio. CONCLUSIONS: The normalized VMO/VL ratio for all the conditions occurred at 90° of knee flexion was higher than the same conditions at 30° of knee flexion (p=0.04), due to a lower level of activity of the VMO. No statistically differences between conditions at the same knee angle were observed, with only exception for lateral rotation at 30° knee flexion (p

BACKGROUND: The objective of this study was to use phase imaging to evaluate brain iron content in patients with idiopathic restless legs syndrome (RLS). METHODS: Fifteen RLS patients and 15 healthy controls were studied using gradient-echo imaging. Phase analysis was performed on localized brain regions of interest selected on phase maps, sensitive to paramagnetic tissue. Differences between the 2 subject groups were evaluated using ANCOVA including age as a covariate. RESULTS: Significantly higher phase values were present in the RLS patients compared with healthy controls at the level of the substantia nigra, thalamus, putamen, and pallidum, indicating reduced iron content in several regions of the brain of the patients. CONCLUSIONS: We have used MRI phase analysis to study brain iron content in idiopathic RLS in vivo for the first time. Our results support the hypothesis of reduced brain iron content in RLS patients, which may have an important role in the pathophysiology of the disorder. © 2013 Movement Disorder Society.

BACKGROUND AND PURPOSE: The aim of this study was to evaluate the presence of abnormalities in the brain of patients with restless legs syndrome (RLS) using voxel-based morphometry and diffusion tensor imaging (DTI). METHODS: Twenty patients and twenty controls were studied. Voxel-based morphometry analysis was performed using statistical parametric mapping (SPM8) and FSL-VBM software tools. For voxel-wise analysis of DTI, tract-based spatial statistics (TBSS) and SPM8 were used. RESULTS: Applying an appropriate threshold of probability, no significant results were found either in comparison or in correlation analyses. CONCLUSIONS: Our data argue against clear structural or microstructural abnormalities in the brain of patients with idiopathic RLS, suggesting a prevalent role of functional or metabolic impairment.

Introduction Numerous studies have described the relationship between exercise intensity and fat oxidation, but few have assessed this relation at different exercise intensities. Most exercise programs for obese patients and resistance training for athletes, have been evaluated for their respiratory and cardiovascular benefits and increased oxidative capacity in skeletal muscle. The study of fat metabolism, induced by training during exercise, has received less attention, although its importance has been recognized both in performance sports and for its impact on health [1-4]. It is therefore imperative to precisely define rigorous standardization procedures (feeding, pre-test activities, test protocol, etc.) that allow a reliable determination of the maximum consumption of lipids (FatMax). In addition, for routine use such procedures should be integrated with an appropriate software to automatically determine parameters of physiological interest, related to the FatMax, in a robust and operator-independent manner. Methods Our group has developed an automatic procedure for determining FatMax, both in terms of load applied and in terms of parameters such as heart rate and RER. The program uses a robust curve fitting procedure for reliable results. The initial application for this procedure is the determination of exercise prescription for overweight subjects, with the aim of maximizing fat loss for a given exercise duration. In the study currently underway, we have recruited 16 subjects (14 female, age 40-54 years, BMI 23-34), who have undergone an initial incremental test to determine their individual FatMax, followed by twice weekly sessions lasting 1 hour, during which the subjects exercise on bike, steps and treadmill for 20 minutes each. During the session a heart rate monitor is used to hit the target heart rate prescribed, and a respirometer to check that the target RER is achieved. At the end of the study period a final incremental test will be performed to ascertain whether relevant physiological parameters have been altered by the training. Results The study is currently underway. The latest results will be presented, emphasizing the design and use of the software that we have developed, and aim to make freely available. References 1. Van Aggel-Leijessen DP, et al. Metabolism 2002; 51:1003-10 2. Turcotte LP, et al. Am J Physiol 1992; 262:E791-E799 3. Romijn JA, et al. Am J Physiol 1993;265:E380–91 4. Jeukendrup AE. CurrOpinClinNutr 1999; 62:999-1005

Background: Friedreich ataxia (FRDA) is the commonest form of autosomal recessive ataxia. This study aimed to define the extent of the brain damage in FRDA patients and to identify in vivo markers of neurodegeneration, using diffusion-weighted imaging (DWI). Methods: We studied 27 FRDA patients and 21 healthy volunteers using a 1.5 T scanner. Axial DW images were obtained and mean diffusivity (MD) maps were generated. Region of interests (ROIs) included medulla, pons, inferior, middle and superior cerebellar peduncles (ICP, SCP, MCP), dentate nucleus, cerebellar white matter, thalamus, caudate, putamen, pallidus, pyramidal tracts at level of posterior limb of internal capsule (PLIC), optic radiations (OR), and corpus callosum. Histograms of MD were generated for all pixels in the whole cerebral hemispheres and infratentorial compartment. Disease severity was assessed by the International Cooperative Ataxia Rating Scale (ICARS). Results: FRDA patients had significantly higher MD values than controls in medulla (P < 0.001), ICP (P < 0.001), MCP (P < 0.01), SCP (P < 0.001), OR (P < 0.001), and at the level of the infratentorial structures such as brainstem (P < 0.01), cerebellar hemispheres (P < 0.01), and especially in the cerebellar vermis (P < 0.001). MD values were strongly correlated with disease duration and ICARS score. Discussion: Our results showed that DWI is a suitable non-invasive technique to quantify the extent of neurodegeneration in FRDA, that appears more extended than previously reported, showing a microstructural involvement of structures such as OR and MCP.