BACKGROUND: How the joints exactly move and interact and how this reflects PD-related gait abnormalities and the response to dopaminergic treatment is poorly understood. A detailed understanding of these kinematics can inform clinical management and treatment decisions. The aim of the study was to investigate the influence of different gait speeds and medication on/off conditions on inter-joint coordination, as well as kinematic differences throughout the whole gait cycle in well characterized pwPD.
METHODS: 29 controls and 29 PD patients during medication on, 8 of them also during medication off walked a straight walking path in slow, preferred and fast walking speeds. Gait data was collected using optical motion capture system. Kinematics of the hip and knee and coordinated hip-knee kinematics were evaluated using Statistical Parametric Mapping (SPM) and cyclograms (angle-angle plots). Values derived from cyclograms were compared using repeated-measures ANOVA for within group, and ttest for between group comparisons.
RESULTS: PD gait differed from controls mainly by lower knee range of motion (ROM). Adaptation to gait speed in PD was mainly achieved by increasing hip ROM. Regularity of gait was worse in PD but only during preferred speed. The ratios of different speed cyclograms were smaller in the PD groups. SPM analyses revealed that PD participants had smaller hip and knee angles during the swing phase, and PD participants reached peak hip flexion later than controls. Withdrawal of medication showed an exacerbation of only a few parameters.
CONCLUSIONS: Our findings demonstrate the potential of granular kinematic analyses, including > 1 joint, for disease and treatment monitoring in PD. Our approach can be extended to further mobility-limiting conditions and other joint combinations.
BACKGROUND: The study is registered in the German Clinical Trials Register (DRKS00022998, registered on 04 Sep 2020).

BACKGROUND: Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare inherited metabolic disease caused by the mutation in the CYP27A1 gene. Spinal CTX is a rare clinical subgroup of CTX which lacks typical symptoms seen in classical CTX. Here we report a spinal CTX case revealed double mutation of CYP27A1 gene.
METHODS: A 42-year-old Asian man visited our hospital with spastic gait started at 35. Physical examination showed bilateral masses on his Achilles tendons and were identified as xanthoma on ankle magnetic resonance imaging (MRI). Brain and spinal cord MRI revealed high signal lesions in bilateral cerebellar dentate nuclei and long tract lesions involving lateral corticospinal and gracile tracts. Gene analysis revealed double heterozygous mutation, c.223C > T (p. Gln75Ter) and c.1214G > A (p. Arg405Gln).
CONCLUSIONS: We believe that novel mutation detected in our case might have a role in the pathomechanism in CTX. Moreover, spinal CTX should be considered in the patients only presenting with pyramidal symptoms, as CTX shows good prognosis in early treatment with chenodeoxycholic acid.

BACKGROUND: People with Parkinson\'s Disease (PD) show abnormal gait patterns compromising their independence and quality of life. Among all gait alterations due to PD, reduced step length, increased cadence, and decreased ground-reaction force during the loading response and push-off phases are the most common. Wearable biofeedback technologies offer the possibility to provide correlated single or multi-modal stimuli associated with specific gait events or gait performance, hence promoting subjects\' awareness of their gait disturbances. Moreover, the portability and applicability in clinical and home settings for gait rehabilitation increase the efficiency in the management of PD. The Wearable Vibrotactile Bidirectional Interface (BI) is a biofeedback device designed to extract gait features in real-time and deliver a customized vibrotactile stimulus at the waist of PD subjects synchronously with specific gait phases. The aims of this study were to measure the effect of the BI on gait parameters usually compromised by the typical bradykinetic gait and to assess its usability and safety in clinical practice.
METHODS: In this case series, seven subjects (age: 70.4 ± 8.1 years; H&Y: 2.7 ± 0.3) used the BI and performed a test on a 10-meter walkway (10mWT) and a two-minute walk test (2MWT) as pre-training (Pre-trn) and post-training (Post-trn) assessments. Gait tests were executed in random order with (Bf) and without (No-Bf) the activation of the biofeedback stimulus. All subjects performed three training sessions of 40 min to familiarize themselves with the BI during walking activities. A descriptive analysis of gait parameters (i.e., gait speed, step length, cadence, walking distance, double-support phase) was carried out. The 2-sided Wilcoxon sign-test was used to assess differences between Bf and No-Bf assessments (p < 0.05).
RESULTS: After training subjects improved gait speed (Pre-trn_No-Bf: 0.72(0.59,0.72) m/sec; Post-trn_Bf: 0.95(0.69,0.98) m/sec; p = 0.043) and step length (Pre-trn_No-Bf: 0.87(0.81,0.96) meters; Post-trn_Bf: 1.05(0.96,1.14) meters; p = 0.023) using the biofeedback during the 10mWT. Similarly, subjects\' walking distance improved (Pre-trn_No-Bf: 97.5 (80.3,110.8) meters; Post-trn_Bf: 118.5(99.3,129.3) meters; p = 0.028) and the duration of the double-support phase decreased (Pre-trn_No-Bf: 29.7(26.8,31.7) %; Post-trn_Bf: 27.2(24.6,28.7) %; p = 0.018) during the 2MWT. An immediate effect of the BI was detected in cadence (Pre-trn_No-Bf: 108(103.8,116.7) step/min; Pre-trn_Bf: 101.4(96.3,111.4) step/min; p = 0.028) at Pre-trn, and in walking distance at Post-trn (Post-trn_No-Bf: 112.5(97.5,124.5) meters; Post-trn_Bf: 118.5(99.3,129.3) meters; p = 0.043). SUS scores were 77.5 in five subjects and 80.3 in two subjects. In terms of safety, all subjects completed the protocol without any adverse events.
CONCLUSIONS: The BI seems to be usable and safe for PD users. Temporal gait parameters have been measured during clinical walking tests providing detailed outcomes. A short period of training with the BI suggests improvements in the gait patterns of people with PD. This research serves as preliminary support for future integration of the BI as an instrument for clinical assessment and rehabilitation in people with PD, both in hospital and remote environments.
BACKGROUND: The study protocol was registered (DGDMF.VI/P/I.5.i.m.2/2019/1297) and approved by the General Directorate of Medical Devices and Pharmaceutical Service of the Italian Ministry of Health and by the ethics committee of the Lombardy region (Milan, Italy).

BACKGROUND: The COVID-19 pandemic has placed a restriction on physiotherapy clinical visits for supervised exercise. It is important that individuals with Parkinson\'s Disease (PD) continue an exercise regime at home during the pandemic and also in normal situations.
OBJECTIVE: The purpose of this study was to explore the case history of an individual with PD who used a developed home-based exercise programme for one year during the COVID-19 pandemic.
METHODS: A 67 year-old married woman was diagnosed with PD stage 2.5 on the modified Hoehn and Yahr (HY) scale. Gait characteristics and the Movement Disorders Society-Unified Parkinson\'s Disease Rating Scale (MDS-UPDRS) motor scores were assessed at baseline, 10 weeks, and 12 months. The home-based exercise program included breathing exercises, posture correction, stretching exercises, rotation of the axial segments, balance training, and task-specific gait training.
RESULTS: After 12 months, her MDS-UPDRS motor scores decreased when compared to baseline and 10 weeks, and gait characteristics at 12 months showed an increase in the degree of foot rotation, step length, cadence, and gait speed when compared to baseline and 10 weeks.
CONCLUSIONS: This case study showed that improvements in MDS-UPDRS and gait characteristics can continue over a 12 month period as a result of a home-based exercise programme. Therefore, home-based exercise programs should be encouraged with weekly monitoring, especially in individuals with gait disorders which show deterioration.

METHODS: An 8-year-old girl with a history of acute flaccid paralysis presented with chronic valgus drop foot causing tripping and falling. Traditionally surgical correction of this deformity is accomplished by transferring the posterior tibialis tendon to enhance dorsiflexion. The authors describe a new technique which transfers the peroneus longus tendon to the dorsum of the foot in a patient with weakness of the posterior tibialis muscle. The patient\'s drop foot and gait were improved at the 22-month follow-up.
CONCLUSIONS: Successful transfer of the peroneus longus was accomplished with improved limb clearance during gait and coronal alignment in stance.

OBJECTIVE: To describe the implementation of an exoskeleton program in a rehabilitation setting using a Design Thinking framework.
METHODS: This is a retrospective case series of 3 randomly selected children who participated in skilled physical therapy using a pediatric exoskeleton that occurred on our journey to walking 1 000 000 steps in the exoskeleton devices. Participants ranged in age from 3 to 5 years, and all had neurologic disorders.
RESULTS: All participants improved toward achieving their therapy goals, tolerated the exoskeleton well, and had an increased number of steps taken over time.
CONCLUSIONS: The implementation of new technology into pediatric care and an established outpatient therapy clinic is described. The Design Thinking process applies to health care professionals and improves clinical care. Exoskeletons are effective tools for use in pediatric physical therapy.

OBJECTIVE: Impaired gait is one of the earliest, most devastating, and long-lasting symptoms associated with neurological disorders. This study tested the feasibility of wearing the NewGait rehabilitative device in individuals with gait impairments due to the most common neurological disorders.
METHODS: Seven participants with gait impairments due to strokes, Multiple Sclerosis, peripheral neuropathies, Cerebral Palsy (CP) and Parkinson\'s Disease (PD) were included in the study. Their walking with and without wearing the NewGait was analyzed and compared using the Vicon T160 system for motion analysis. Gait velocity, step length, foot clearance, lateral displacement of the Center of Mass, gait deviation and symmetry indexes were compared using two standard deviation band method for each participant.
RESULTS: Participants subjectively assessed the NewGait as a comfortable device to wear and showed immediate gait improvements to varying degrees. Most improvements were observed in participants with muscle weakness due to peripheral neuropathies, stroke, MS, and CP. These participants improved their foot clearance, gait velocity, and step length. Participants with cerebellar stroke and PD increased their gait stability. All participants demonstrated a reduction in composite gait deviation indexes. Not all gait parameters, though, showed immediate changes.
CONCLUSIONS: The results suggest that the NewGait rehabilitative device is feasible and useful for correcting gait impairments caused by neurological deficits. Participants may need to wear this device for longer periods of time in order to achieve long lasting changes in the gait pattern, rather than an immediate correction.

UNASSIGNED: Cerebellar impairment (CI) manifests from different etiologies resulting in a heterogenic clinical presentation affecting walking and mobility. Case-reports were reviewed to provide an analytical clinical picture of persons with CI (PwCI) to differentiate cerebellar and non-cerebellar impairments and to identify interventions and assessments used to quantify impact on walking and mobility according to the International Classification of Functioning, Disability and Health (ICF).
UNASSIGNED: Literature was searched in PubMed, Web Of Science and Scopus. Case-reports conducting physical rehabilitation and reporting at least one outcome measure of ataxia, gait pattern, walking or mobility were included.
UNASSIGNED: 28 articles with a total of 38 different patients were included. Etiologies were clustered to: spinocerebellar degenerations, traumatic brain injuries, cerebellar tumors, stroke and miscellaneous. The interventions applied were activity-based, including gait and balance training. Participation based activities such as tai chi, climbing and dance-based therapy had positive outcomes on mobility. Outcomes on body function such as ataxia and gait pattern were only reported in 22% of the patients.
UNASSIGNED: A comprehensive test battery to encompass the key features of a PwCI on different levels of the ICF is needed to manage heterogeneity. Measures on body function level should be included in interventions.
This review reports on 38 cerebellar cases from 14 different aetiologies.Distinguishing cerebellar and non-cerebellar symptoms and categorising patients within the three cerebellar syndromes can assist with heterogeneity.Reporting of assessment on the body function level of ICF in terms of ataxia and gait pattern was only present in a minority of reports and thus increased reporting is encouraged.Multimodal and patient-tailored strategies are promising for targeting walking and mobility in persons with cerebellar impairment.

BACKGROUND Although arachnoid cysts are common lesions, the pathogenesis of their continuous growth remains unclear. We aimed to identify the role of aquaporins in arachnoid cyst specimens. CASE REPORT We selected 3 cases from our own facility and examined arachnoid cyst wall specimens, which were sampled intraoperatively. Patients presented with variable symptoms, a 52-year-old man with a \"heavy sensation\" in the head and dysesthesia on the left hand, a 68-year-old man with unsteady gait, and finally a 26-year-old woman with a history of intermittent headaches for 10 years. Intraoperative specimens were obtained and examined. Evaluation techniques were light microscopy, immunohistochemical staining for aquaporin, and electron microscopy. Light microscopy showed that cells were arranged in epithelium-like structures forming several thick lamellae, with visible connective tissue among them. Under electron microscopic examination, cells with many or few cell organelles and with spindle-like nuclei were arranged in lamellar or flattened structures. Many vacuolizations were seen in between. Interdigitation of cells and many desmosomes were observed. All 3 cases were positive for aquaporin 1. CONCLUSIONS Our study showed that water transportation through aquaporin 1 has a potential role in the formation and expansion of arachnoid cysts.

BACKGROUND: Freezing of gait (FOG) is one of the most debilitating symptoms in patients with idiopathic Parkinson\'s disease (IPD). Visual cues can relieve FOG symptoms. However, there is no consensus on patient characteristics that can benefit from visual cues. Therefore, we examined the differences in IPD patient characteristics according to the effectiveness of visual cueing.
METHODS: Through gait experiments, we investigated the number of FOG occurrences, average FOG period per episode, proportion of FOG duration in the total gait cycles, and FOG-free period gait spatiotemporal parameters in ten participants diagnosed with FOG due to IPD. Subsequently, the differences between their clinical characteristics and striatal dopamine active transporter availability from six subregions of the striatum were compared by dividing them into two groups based on the three reduction rates: occurrence numbers, mean durations per episode, and proportion of FOG duration in the total gait cycles improved by visual cueing using laser shoes. The relationships among these three reduction rates and other FOG-related parameters were also investigated using Spearman correlation analyses.
RESULTS: According to the three FOG-related reduction rates, the group assignments were the same, which was also related to the baseline self-reported FOG severity score (New Freezing of Gait Questionnaire): the more severe the FOG, the poorer the response to the visual cueing. By visual cueing, the better response group demonstrated the characteristics of lower new FOG questionnaire total scores, higher dopamine active transporter availability of the anterior and posterior putamen, and shorter mean duration of FOG per episode in the absence of cueing. These results were replicated using Spearman correlation analyses.
CONCLUSIONS: For FOG symptoms following IPD, gait assistance by visual cueing may be more effective when the total NFOGQ score is lower and the DAT of putamen is higher. Through this study, we demonstrated clinical and striatal dopaminergic conditions to select patients who may be more likely to benefit from visual cueing with laser shoes, and these findings lead to the need for early diagnosis of FOG in patients with IPD.
BACKGROUND: ClinicalTrials.gov identifier: NCT05080413. Registered on September 14, 2021.