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We have identified missense mutations at conserved amino acids in the PRPS1 gene on Xq22.3 in two families with a syndromic form of inherited peripheral neuropathy, one of Asian and one of European descent. The disease is inherited in an X-linked recessive manner, and the affected male patients invariably develop sensorineural hearing loss of prelingual type followed by gating disturbance and visual loss. The family of European descent was reported in 1967 as having Rosenberg-Chutorian syndrome, and recently a Korean family with the same symptom triad was identified with a novel disease locus CMTX5 on the chromosome band Xq21.32-q24. PRPS1 (phosphoribosyl pyrophosphate synthetase 1) is an isoform of the PRPS gene family and is ubiquitously expressed in human tissues, including cochlea. The enzyme mediates the biochemical step critical for purine metabolism and nucleotide biosynthesis. The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5. We also showed decreased enzyme activity in patients with M115T. PRPS1 is the first CMT gene that encodes a metabolic enzyme, shedding a new light on the understanding of peripheral nerve-specific metabolism and also suggesting the potential of PRPS1 as a target for drugs in prevention and treatment of peripheral neuropathy by antimetabolite therapy.

Background and Purpose— The purpose of this study was to investigate the effects of gait training with a newly developed wearable hip-assist robot on locomotor function and efficiency in patients with chronic stroke. Methods— Twenty-eight patients with stroke with hemiparesis were initially enrolled, and 26 patients completed the randomized controlled trial (14 in the experimental and 12 in the control groups). The experimental group participated in a gait training program over a total of 10 sessions, including 5 treadmill sessions and 5 over-ground gait training sessions while wearing a hip-assist robot, the Gait Enhancing and Motivating System (GEMS, Samsung Advanced Institute of Technology, Suwon, Republic of Korea). The control group received gait training without Gait Enhancing and Motivating System. Primary outcome measured locomotor function and cardiopulmonary metabolic energy efficiency. Also, secondary outcome measured motor function and balance parameter. Results— Compared with the control group, the experimental group had significantly greater improvement in spatiotemporal gait parameters and muscle efforts after the training intervention ( P <0.05). The net cardiopulmonary metabolic energy cost (mL·kg −1 ·min − 1 ) was also reduced by 14.71% in the experimental group after the intervention ( P <0.01). Significant group×time interactions were observed for all parameters ( P <0.05). Cardiopulmonary metabolic efficiency was strongly correlated with gait symmetry ratio in the experimental group ( P <0.01). Conclusions— Gait training with Gait Enhancing and Motivating System was effective for improving locomotor function and cardiopulmonary metabolic energy efficiency during walking in patients with stroke. These findings suggest that robotic locomotor training can be adopted for rehabilitation of patients with stroke with gait disorders. Clinical Trial Registration— URL: https://clinicaltrials.gov . Unique identifier: NCT02843828.

The aims of this paper were to investigate the effectiveness of a newly developed wearable hip assist robot, that uses an active assist algorithm to improve gait function, muscle effort, and cardiopulmonary metabolic efficiency in elderly adults. Thirty elderly adults (15 males/ 15 females) participated in thispaper. The experimental protocol consisted of overground gait at comfortable speed under three different conditions: free gait without robot assistance, robot-assisted gait with zero torque (RAG-Z), and full RAG. Under all conditions, muscle effort was analyzed using a 12-channel surface electromyography system. Spatio-temporal data were collected at 120 Hz using a 3-D motion capture system with six infrared cameras. Metabolic cost parameters were collected as oxygen consumption per unit (ml/min/kg) and aerobic energy expenditure (Kcal/min). In the RAG condition, participants demonstrated improved gait function, decreased muscle effort, and reduced metabolic cost. Although the hip assist robot only provides assistance at the hip joint, our results demonstrated a clear reduction in knee and ankle muscle activity in addition to decreased hip flexor and extensor activity. Our findings suggest that this robot has the potential to improve stabilization of the trunk during walking in elderly adults.

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The aim of this study was to investigate hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1 A (CMT1A), a common inherited demyelinating neuropathy. By using pure-tone audiometry, 43 patients with CMT1A and 60 healthy controls with normal sound detection abilities were enrolled. Speech perception in quiet and noisy backgrounds, spectral ripple discrimination (SRD), and temporal modulation detection (TMD) were measured. Although CMT1A patients and healthy controls had similar pure-tone thresholds and speech perception scores in a quiet background, CMT1A patients had significantly (p < 0.05) decreased speech perception ability in a noisy background compared to controls. CMT1A patients showed significantly decreased temporal and spectral resolution (both p < 0.05). Also, auditory temporal processing of CMT1A patients was correlated with speech perception in a noisy background (r = 0.447, p < 0.01) and median motor conduction velocity (r = 0.335, p < 0.05). Therefore, we assumed that demyelination of auditory nerve in CMT1A causes defective cochlear neurotransmission, which reduces temporal resolution and speech perception in a noisy background. Because the temporal resolution test was well correlated with the degree of demyelination in auditory and peripheral motor nerves, temporal resolution testing could be performed as an additional marker for CMT1A.

BackgroundA robotic exoskeleton device is an intelligent system designed to improve gait performance and quality of life for the wearer. Robotic technology has developed rapidly in recent years, and several robot-assisted gait devices were developed to enhance gait function and activities of daily living in elderly adults and patients with gait disorders. In this study, we investigated the effects of the Gait-enhancing Mechatronic System (GEMS), a new wearable robotic hip-assist device developed by Samsung Electronics Co, Ltd., Korea, on gait performance and foot pressure distribution in elderly adults.MethodsThirty elderly adults who had no neurological or musculoskeletal abnormalities affecting gait participated in this study. A three-dimensional (3D) motion capture system, surface electromyography and the F-Scan system were used to collect data on spatiotemporal gait parameters, muscle activity and foot pressure distribution under three conditions: free gait without robot assistance (FG), robot-assisted gait with zero torque (RAG-Z) and robot-assisted gait (RAG).ResultsWe found increased gait speed, cadence, stride length and single support time in the RAG condition. Reduced rectus femoris and medial gastrocnemius muscle activity throughout the terminal stance phase and reduced effort of the medial gastrocnemius muscle throughout the pre-swing phase were also observed in the RAG condition. In addition, walking with the assistance of GEMS resulted in a significant increase in foot pressure distribution, specifically in maximum force and peak pressure of the total foot, medial masks, anterior masks and posterior masks.ConclusionThe results of the present study reveal that GEMS may present an alternative way of restoring age-related changes in gait such as gait instability with muscle weakness, reduced step force and lower foot pressure in elderly adults. In addition, GEMS improved gait performance by improving push-off power and walking speed and reducing muscle activity in the lower extremities.Trial registration NCT02843828.