Ataxia or Gait Instability

BACKGROUND: Postural instability and gait disorder dominant (PIGD) is one of the most common disabling symptoms of Parkinson's disease (PD), which seriously affects patients' quality of life. Therefore, it is essential to identify PIGD and develop targeted interventions to reduce the risk of PIGD in PD patients. AIM: This study aimed to investigate the gait characteristics of PD patients based on wearable devices and to establish a predictive model for their related influencing factors...

BACKGROUND: Gait retraining using haptic biofeedback medially shifts the center of pressure (COP) while walking in orthopedic populations. However, the ideal sensor location needed to effectively shift COP medially has not been identified in people with chronic ankle instability (CAI). RESEARCH QUESTIONS: Can a heel sensor location feasibly be employed in people with CAI without negatively altering kinematics? Does a heel sensor placement relative to the 5th metatarsal head (5MH) impact COP location while walking in people with CAI? METHODS: In this exploratory crossover study, 10 participants with CAI walked on a treadmill with vibration feedback for 10 minutes with a plantar pressure sensor under the heel and 5MH...

The reflexive responses to resist external forces and maintain posture result from the coordination between the vestibular system, muscle, tendon, and joint proprioceptors, and vision. Aging deteriorates these crucial functions, increasing the risk of falls. This study aimed to verify whether a training program with water bags, an Instability Neuromuscular training (INT) using the inertial load of water, could positively impact balance ability and dynamic stability. This study was conducted with twenty-two healthy older women aged ≥ 65 (mean age: 74...

This study investigated the sensory nerve function in people with different subtypes of Parkinson's disease (PD), which included the tremor-dominant (TD) group (n = 30), postural instability and gait disorder (PIGD) group (n = 33), and healthy-controls (HC) group (n = 33). Sural nerve's current perception threshold (CPT) and pain tolerance threshold (PTT) in both feet were measured at different frequencies. Results were evaluated using the mini-mental state examination (MMSE), Hoehn Yahr scale (H-Y), and 3-meter timed-up-and-go-test (TUGT)...

Fanconi anemia (FA) is a complex inherited bone marrow failure syndrome characterized by chromosomal instability and defective DNA repair causing sensitivity to DNA interstrand cross-linking agents. Our understanding of the full adult phenotype of the disease continues to evolve, as most patients with Fanconi Anemia died of marrow failure in the first decade of life prior to more recent advances in allogeneic hematopoietic cell transplantation. Herein, we report a previously undescribed, clinically concerning, progressive neurologic syndrome in patients with FA...

The Postural Instability/Gait Difficulty (PIGD) subtype of Parkinson's disease (PD) has a faster disease progression, a higher risk of cognitive and motor decline, yet the alterations of structural topological organization remain unknown. Diffusion Tensor Imaging (DTI) and 3D-TI scanning were conducted on 31 PD patients with PIGD (PD-PIGD), 30 PD patients without PIGD (PD-non-PIGD) and 35 Healthy Controls (HCs). Structural networks were constructed using DTI brain white matter fiber tractography. A graph theory approach was applied to characterize the topological properties of complex structural networks, and the relationships between significantly different network metrics and motor deficits were analyzed within the PD-PIGD group...

INTRODUCTION: Health specialists suggest a conservative approach comprising non-pharmacological interventions as the initial course of action for individuals with repetitive ankle sprain due to ankle instability. This systematic review aimed to assess the effectiveness of biomechanical devices (Foot Orthoses, Ankle Orthoses, and Taping) on gait and muscle activity in individuals with ankle instability. METHODS: A systematic search was performed on electronic databases, including PubMed, EMBASE, Clinical Trials...

A 52-year-old man had developed hearing loss since childhood, as well as recurrent foot ulcers and osteomyelitis since his forties. He presented with gait disturbance and dysarthria that had worsened over four years and a month, respectively. Neurological exams revealed cognitive impairment, proximal weakness of the lower extremities, generalized hyperrflexia, ataxia, sensory disturbances predominant in deep sensation, urinary retention, and gait instability. On nerve conduction study, no sensory nerve action potentials were evoked in the upper and lower limbs...

Mucopolysaccharidosis IV type B, or Morquio B disease (MBD), is an autosomal recessive disorder caused by a genetic mutation in GLB1 gene encoding for β-galactosidase on chromosome 3p22.33. β-galactosidase deficiency can result in two different conditions, GM1 gangliosidosis and MBD, of which MBD has a milder phenotype and presents later in life with keratan sulfate accumulation in the retina and cartilage. In this case report, we present a patient diagnosed with MBD at the age of 5 after initially presenting with Morquio dysostosis multiplex and characteristic radiographic findings...

BACKGROUND: Cadaver biomechanical testing suggests that the morphology of articulating bones contributes to the stability of the joints and determines their kinematics; however, there are no studies examining the correlation between bone morphology and kinematics of the subtalar joint. The purpose of this study was to investigate the influence of talar and calcaneal morphology on subtalar kinematics during walking in healthy individuals. METHODS: Forty ankles (20 healthy subjects, 10 women/10 men) were included...

BACKGROUND: Postural instability and gait abnormalities are frequently observed after an ankle sprain. A modified Four Square Step Test (mFSST) was developed to assess dynamic balance during gait. The aim of this study was to evaluate the reliability and validity of the mFSST in individuals with ankle sprains. METHODS: The study included 39 individuals with grade 1 and 2 ankle sprains with a mean age of 30.36 ± 6.21 years. The dynamic balance of the participants was assessed with the mFSST and Timed Up & Go test (TUG)...

As the leading cause of disability worldwide, low back pain (LBP) is recognized as a pivotal socioeconomic challenge to the aging population and is largely attributed to intervertebral disc degeneration (IVDD). Elastic nucleus pulposus (NP) tissue is essential for the maintenance of IVD structural and functional integrity. The accumulation of senescent NP cells with an inflammatory hypersecretory phenotype due to aging and other damaging factors is a distinctive hallmark of IVDD initiation and progression. In this study, we reveal a mechanism of IVDD progression in which aberrant genomic DNA damage promoted NP cell inflammatory senescence via activation of the cyclic GMP-AMP synthase/stimulator of IFN genes (cGAS/STING) axis but not of absent in melanoma 2 (AIM2) inflammasome assembly...

BACKGROUND: The hallux plays a crucial role in maintaining standing balance and facilitating forward and backward movements during gait. CASE PRESENTATION: A 21-year-old Japanese patient, suffering from a traumatic hallux deficit with only a portion of the basal phalanx intact, underwent rehabilitation treatment. The thenar area exhibited instability, leading to impaired balance and walking difficulties. Biomechanical assessment revealed the need for a rehabilitation strategy for the foot, as well as the knee, hip, and trunk...

Synaptic dysfunction plays a key role in Parkinson's disease (PD), and plasma extracellular vesicle (EV) synaptic proteins are emerging as biomarkers for neurodegenerative diseases. Assessment of plasma EV synaptic proteins for their efficacy as biomarkers in PD and their relationship with disease progression was conducted. In total, 144 participants were enrolled, including 101 people with PD (PwP) and 43 healthy controls (HCs). The changes in plasma EV synaptic protein levels between baseline and 1-year follow-up did not differ significantly in both PwP and HCs...

BACKGROUND: The clinical features and outcomes of post-COVID parkinsonism have not been organized systematically, and the possible correlations between COVID-19 and parkinsonism have not been elucidated. This scoping review addresses these two unmet needs. METHODS: We searched two databases (Pubmed, Embase) for all published cases of post-COVID parkinsonism. Data were extracted from eligible studies using standardized forms and predefined inclusion and exclusion criteria...

Ataxia Telangiectasia and Rad3-related (ATR) checkpoint kinase inhibitors are in clinical trials. Here we explored the molecular pharmacology and therapeutic combination strategies of the oral ATR inhibitor M1774 (Tuvusertib) with DNA damaging agents (DDAs). As single agent, M1774 suppressed cancer cell viability at nanomolar concentrations, showing greater activity than ceralasertib and berzosertib, but less potency than gartisertib and elimusertib in the small-cell lung cancer H146, H82, and DMS114 cell lines...

We presented an unusual case of a teratoma in a 76-year-old female who began four years ago with paresthesias and hypoesthesias in the sacral and gluteal regions. She denied weakness or gait instability. The magnetic resonance imaging showed an intradural lesion within the cauda equina at levels L2-L3. We decided to perform a posterior midline approach to the lumbar region to expose L2-L3 levels. After doing the L2-L3 laminectomy and the durotomy, we found a solid lesion surrounded by nerve roots with heterogeneous content...

Previous research has reported mixed findings regarding age-related changes in dynamic postural stability, quantified by margin of stability (MOS), during gait. However, age-related changes in MOS may be better elicited by tasks imposing greater challenges to the postural control system. Older adults' MOS during obstacle crossing, a destabilizing task, has previously been characterized, although studies comparing MOS during this task between younger and older adults remain sparse. This study investigated age-related changes in dynamic postural stability during quiet standing, gait, and obstacle crossing...

Expansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington's disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inversely correlated with the size of the respective inherited expanded CAG repeat. Expanded CAG repeats are also somatically unstable in certain tissues, and age-at-onset of Huntington's disease corrected for individual HTT CAG repeat length (i.e. residual age-at-onset), is modified by repeat instability-related DNA maintenance/repair genes as demonstrated by recent genome-wide association studies...

PURPOSE: Cognitive impairment is one of the most debilitating nonmotor symptoms in Parkinson disease (PD), and its presentation is heterogeneous. One proposed model to explain cognitive variability in PD is the dual-syndrome hypothesis. This hypothesis delineates two cognitive profiles, a "fronto-striatal" profile and a "posterior cortical" profile according to symptom presentation, associated motor phenotype, and risk for dementia. The current study examined the dual-syndrome hypothesis in individuals with idiopathic PD to evaluate the existence of these profiles, determine the association with the motor phenotype (tremor dominant vs...