As anticipated by the low penetrance of GBA mutations, these findings suggest that pre-manifest non-motor or motor features of PD may not present in most GBA mutation carriers.  https://www.selleckchem.com/products/apilimod.html  However, there is support that there may be a subtle difference in executive functioning among some non-manifesting heterozygous GBA mutation carriers, and, combined with olfaction, this may warrant additional scrutiny as a potential biomarker for pre-manifest and pre-clinical GBA related PD.Hereditary spastic paraplegia (HSP) is a neurological, genetic disorder that predominantly presents with lower limb spasticity and muscle weakness. Pediatric pure HSP types with infancy or childhood symptom onset resemble in clinical presentation to children with bilateral spastic cerebral palsy (SCP). Hence, treatment approaches in these patient groups are analogous. Altered muscle characteristics, including reduced medial gastrocnemius (MG) muscle growth and hyperreflexia have been quantified in children with SCP, using 3D-freehand ultrasound (3DfUS) and instrumented assessments of hyperreflexia, respectively. However, these muscle data have not yet been studied in children with HSP. Therefore, we aimed to explore these MG muscle characteristics in HSP and to test the hypothesis that these data differ from those of children with SCP and typically developing (TD) children. A total of 41 children were retrospectively enrolled including (1) nine children with HSP (ages of 9-17 years with gross motor function lP type with pediatric onset compared to bilateral SCP. This finding needs to be confirmed in larger sample sizes. Hence, the study results might indicate analogous treatment approaches in these two patient groups.Background/Objective During the COVID-19 pandemic, smell and taste disorders emerged as key non-respiratory symptoms. Due to widespread presence of the disease and to difficult objective testing of positive persons, the use of short surveys became mandatory. Most of the existing resources are focused on smell, very few on taste or trigeminal chemosensation called chemesthesis. However, it is possible that the three submodalities are affected differently by COVID-19. Methods We prepared a short survey (TaSCA) that can be administered at the telephone or through online resources to explore chemosensation. It is composed of 11 items on olfaction, taste, and chemesthesis, in order to discriminate the three modalities. We avoided abstract terms, and the use of semiquantitative scales because older patients may be less engaged. Statistical handling included descriptive statistics, Pearson's chi-squared test and cluster analysis. Results The survey was completed by 83 persons (60 females and 23 males), which reported diagnosis of COVID-19 by clinical (n = 7) or molecular (n = 18) means, the others being non-COVID subjects. Cluster analysis depicted the existence of two groups, one containing mostly asymptomatic and one mostly symptomatic subjects. All swab-positive persons fell within this second group. Only one item, related to trigeminal temperature perception, did not discriminate between the two groups. Conclusions These preliminary results indicate that TaSCA may be used to easily track chemosensory symptoms related to COVID-19 in an agile way, giving a picture of three different chemosensory modalities.Background Tractography has been widely adopted to improve brain gliomas' surgical planning and guide their resection. This study aimed to evaluate state-of-the-art of arcuate fasciculus (AF) tractography for surgical planning and explore the role of along-tract analyses in vivo for characterizing tumor histopathology. Methods High angular resolution diffusion imaging (HARDI) images were acquired for nine patients with tumors located in or near language areas (age 41 ± 14 years, mean ± standard deviation; five males) and 32 healthy volunteers (age 39 ± 16 years; 16 males). Phonemic fluency task fMRI was acquired preoperatively for patients. AF tractography was performed using constrained spherical deconvolution diffusivity modeling and probabilistic fiber tracking. Along-tract analyses were performed, dividing the AF into 15 segments along the length of the tract defined using the Laplacian operator. For each AF segment, diffusion tensor imaging (DTI) measures were compared with those obtained in healthy contghtward parietal lobe activation (LI less then 0) correlated with a higher number of abnormal MD segments (R = -0.732) and RD segments (R = -0.724). Conclusions AF tractography allows to detect the course of the tract, favoring the safer-as-possible tumor resection. Our preliminary study shows that along-tract DTI metrics can provide useful information for differentiating LG and HG tumors during pre-surgical tumor characterization.Objective Comparing the surgical outcomes of the Minimally Invasive Ponto Surgery (MIPS) technique with the linear incision technique with soft tissue preservation (LITT-P) for bone conduction devices after a follow-up of 22 months. Methods In this multicenter randomized controlled trial, there was the inclusion of 64 adult patients eligible for unilateral surgery. There was 11 randomization to the MIPS (test) or the LITT-P (control) group. The primary outcome was an (adverse) soft tissue reaction. Secondary outcomes were pain, loss of sensibility, soft tissue height/overgrowth, skin sagging, implant loss, Implant Stability Quotient measurements, cosmetic scores, and quality of life questionnaires. Results Sixty-three subjects were analyzed in the intention-to-treat population. No differences were found in the presence of (adverse) soft tissue reactions during complete follow-up. Also, there were no differences in pain, wound dehiscence, skin level, soft tissue overgrowth, and overall quality of life. Loss of sensibility (until 3-month post-surgery), cosmetic scores, and skin sagging outcomes were better in the MIPS group. The Implant Stability Quotient was higher after the LITT-P for different abutment lengths at various points of follow-up. Implant extrusion was nonsignificantly higher after the MIPS (15.2%) compared with LITT-P (3.3%). Conclusion The long-term results show favorable outcomes for both techniques. The MIPS is a promising technique with some benefits over the LITT-P. Concerns regarding nonsignificantly higher implant loss may be overcome with future developments and research. Clinical Trial Registration www.ClinicalTrials.gov, identifier NCT02438618.