Figure - available from: Frontiers in Human Neuroscience
This content is subject to copyright.
Source publication
Ataxia is a kind of external characteristics when the human body has poor coordination and balance disorder, it often indicates diseases in certain parts of the body. Many internal factors may causing ataxia; currently, observed external characteristics, combined with Doctor’s personal clinical experience play main roles in diagnosing ataxia. In th...
Similar publications
The Internet of Medical Things (IoMT) is a bio-network of associated medical devices, which is slowly improving the healthcare industry by focusing its abilities on enhancing personal healthcare benefits with medical data. Moreover, the IoMT tries to deliver sufficient and more suitable medical services at a low cost. With the rapid growth of techn...
Citations
... Specifically, the spheroids located mainly in the fasciculus gracilis of the dorsal cord, and the posterior column nuclei and nucleus cuneatus accessorius of the medulla oblongata. Given the distribution of the spheroids, we considered that sensory feedback signals might be interrupted (sensory ataxia) (Chhetri et al., 2014;Zhang et al., 2021) and might cause progressive neurological symptoms including abnormal hind limb gaits in F344-kk/kk rats. ...
Neuroaxonal dystrophy (NAD) is a neurodegenerative disease characterized by spheroid (swollen axon) formation in the nervous system. In the present study, we focused on a newly established autosomal recessive mutant strain of F344-kk/kk rats with hind limb gait abnormalities and ataxia from a young age. Histopathologically, a number of axonal spheroids were observed throughout the central nervous system, including the spinal cord (mainly in the dorsal cord), brain stem, and cerebellum in F344-kk/kk rats. Transmission electron microscopic observation of the spinal cord revealed accumulation of electron-dense bodies, degenerated abnormal mitochondria, as well as membranous or tubular structures in the axonal spheroids. Based on these neuropathological findings, F344-kk/kk rats were diagnosed with NAD. By a positional cloning approach, we identified a missense mutation (V95E) in the Hspa8 (heat shock protein family A (Hsp70) member 8) gene located on chromosome 8 of the F344-kk/kk rat genome. Furthermore, we developed the Hspa8 knock-in (KI) rats with the V95E mutation using the CRISPR-Cas system. Homozygous Hspa8-KI rats exhibited ataxia and axonal spheroids similar to those of F344-kk/kk rats. The V95E mutant HSC70 protein exhibited the significant but modest decrease in the maximum hydrolysis rate of ATPase when stimulated by co-chaperons DnaJB4 and BAG1 in vitro, which suggests the functional deficit in the V95E HSC70. Together, our findings provide the first evidence that the genetic alteration of the Hspa8 gene caused NAD in mammals.
... In addition, signs and symptoms, such as hypotonia, stuttering, pendulum reflexes, altered eye movements, and nystagmus, can also be present [3]. However, ataxia does not result only from cerebellar lesions; interference with somatosensory transmission to the CE, either by spinocerebellar injury or by peripheral disorders, can also produce symptoms of ataxia [4,5]. The areas that show the cerebellar lesion can be diagnosed by observing a deficit in the individual motor activity. ...
Cerebellar ataxia is a heterogeneous group of neural disorders clinically characterized by cerebellar dysfunction. The diagnosis of patients with progressive cerebellar ataxia is complex due to the direct correlation with other neuron diseases. Although there is still no cure for this pathological condition, some metabolic, hereditary, inflammatory, and immunological factors affecting cerebellar ataxia are being studied and may become therapeutic targets. Advances in studying the neuroanatomy, pathophysiology, and molecular biology of the cerebellum (CE) contribute to a better understanding of the mechanisms behind the development of this disorder. In this study, Wistar rats aged 30 to 35 days were injected intraperitoneally with 3-acetylpyridine (3-AP) and/or metformin (for AMP-activated protein kinase (AMPK) enzyme activation) and euthanized in 24 hours and 4 days after injection. We analyzed the neuromodulatory role of the AMPK on cerebellar ataxia induced by the neurotoxin 3-AP in the brain stem (BS) and CE, after pre-treatment for 7 and 15 days with metformin, a pharmacological indirect activator of AMPK. The results shown here suggest that AMPK activation in the BS and CE leads to a significant reduction in neuroinflammation in these regions. AMPK was able to restore the changes in fatty acid composition and pro-inflammatory cytokines caused by 3-AP, suggesting that the action of AMPK seems to result in a possible neuroprotection on the cerebellar ataxia model.
... Ataxia can result from disorders of the cerebellum (motor ataxia) or disorders or proprioception due to peripheral nerve/dorsal column of the spinal cord lesions (sensory ataxia). 36 In motor ataxia, patients typically have other cerebellar signs, such as dysmetria (over-reaching or under-reaching), intention tremor, dysdiadochokinesis, dysarthria, nystagmus or other oculomotor cerebellar findings. Patients with a cerebellar gait disorder often present with other midline cerebellar symptoms (resulting from a lesion in the vermis of the cerebellum), such as dysarthria and abnormal eye movements. ...
Gait disorders are a common feature of neurological disease. The gait examination is an essential part of the neurological clinical assessment, providing valuable clues to a myriad of causes. Understanding how to examine gait is not only essential for neurological diagnosis but also for treatment and prognosis. Here, we review aspects of the clinical history and examination of neurological gait to help guide gait disorder assessment. We focus particularly on how to differentiate between common gait abnormalities and highlight the characteristic features of the more prevalent neurological gait patterns such as ataxia, waddling, steppage, spastic gait, Parkinson’s disease and functional gait disorders. We also offer diagnostic clues for some unusual gait presentations, such as dystonic, stiff-person and choreiform gait, along with red flags that help differentiate atypical parkinsonism from Parkinson’s disease.
... Moreover, the featureimportance evaluation revealed that their proposed method correlates higher ataxia-severity with broader steps, slower walking speed, and more instability. Zhang et al. [24], ataxia is a symptom that arises whenever the human body experiences problems with balance and coordination. Although there are a variety of possible internal causes of ataxia, the condition is often diagnosed based on external characteristics and the physician's own clinical experience. ...
... where (•) defines if ℎ feature is selected or not; the process is given in (24). ...
span>The examination of neurological disorders and the monitoring of ataxic gait are major scientific topics that benefit from digital signal processing techniques and machine learning (ML) technologies. In this research, an ML approach is optimized with the use of Spatio-temporal data obtained from a kinect-sensor to differentiate between normal gait and ataxic. The current ML-based approaches perform very poorly because they cannot build feature-correlation among many gait characteristics. Furthermore, current ML-based techniques generate more false-positive whenever data is imbalanced in nature; especially for performing multi-label classification. This work presents a feature selection and ranking (FSR) based on extreme gradient boost (XGB) for ataxia severity classification. The FSR-XGB introduce an enhanced misclassification minimization error optimization and presents a novel feature selection and ranking to introduce feature importance using new cross-validation mechanism, both of which are aimed at solving the multi-label classification research problems. Results from experiments demonstrate that the presented FSR-XGB approach outperforms other ML-based and deep learning-based approaches.</span
... 1,2 Proprioception has a substantial role in motor control, and loss of proprioception can result in sensory ataxia, impaired balance, and incoordination that are exacerbated in the absence of visual compensation. 1,3 Beyond motor control, the somatosensory system plays a role in motor learning and functional recovery. 4 In post-stroke individuals, proprioceptive deficits predicted the possibility to benefit from constraint-induced therapy, 5 and finger proprioception and somatosensory system integrity predicted treatment-related hand function gains from robot-based therapy. ...
Objective
We aimed to identify key aspects of the learning dynamics of proprioception training including: 1) specificity to the training type, 2) acquisition of proprioceptive skills, 3) retention of learning effects, and 4) transfer to different proprioceptive skills.
Methods
We performed a systematic literature search using the database (MEDLINE, EMBASE, Cochrane Library, and PEDro). The inclusion criteria required adult participants who underwent any training program that could enhance proprioceptive function, and at least 1 quantitative assessment of proprioception before and after the intervention. We analyzed within-group changes to quantify the effectiveness of an intervention.
Results
In total, 106 studies with 343 participant-outcome groups were included. Proprioception-specific training resulted in large effect sizes with a mean improvement of 23.4 to 42.6%, nonspecific training resulted in medium effect sizes with 12.3 to 22% improvement, and no training resulted in small effect sizes with 5.0 to 8.9% improvement. Single-session training exhibited significant proprioceptive improvement immediately (10 studies). For training interventions with a midway evaluation (4 studies), trained groups improved by approximately 70% of their final value at the midway point. Proprioceptive improvements were largely maintained at a delayed follow-up of at least 1 week (12 studies). Finally, improvements in 1 assessment were significantly correlated with improvements in another assessment (10 studies).
Conclusions
Proprioceptive learning appears to exhibit several features similar to motor learning, including specificity to the training type, 2 time constant learning curves, good retention, and improvements that are correlated between different assessments, suggesting a possible, common mechanism for the transfer of training.
... Sato et al. [15] implemented pose estimation for Parkinsonian gait quantification, providing evidence that their methods can be applied in home-based environments where virtual therapy sessions can be more convenient. Similar to the scope of this research, in [16]- [18], the authors proposed methods for classifying different types of ataxia. Cerebellar ataxic gait identification was also explored in [19], utilizing SVM, CNN, and Naïve Bayes' classifiers to diagnose ataxic and normal gait using their developed dataset from frequency components of sensorbased accelerometric signals. ...
Human gait analysis has been one of the primary procedures for diagnosis in modern healthcare applications for various diseases. Instead of using expensive wearable sensors on patients, this research aims to assist in gait analysis and classification for medical diagnoses using computer vision solely. A long short-term memory (LSTM) neural network based on MediaPipe Pose for video-based human gait analysis is proposed to assist in diagnosing patients with neurodegenerative diseases, particularly cerebellar ataxia. The kinematic parameters were extracted from the pose estimation model on captured gait videos before deriving the spatiotemporal parameters for quantitative gait analysis. Data augmentation is applied to increase dataset size, and five-fold cross-validation is performed to verify the suitability of the developed dataset for training deep neural networks. The selected LSTM model achieves a testing accuracy of 99.8% with very high precision and recall metrics for ataxic and normal gait classes. The proposed methodology can be applied in broader applications for remote rehabilitation and patient monitoring. Clinical Relevance-The developed system can assist physicians in diagnosing cerebellar ataxic patients and monitoring gait rehabilitation process remotely via camera vision.
... A comprehensive and systematic approach to evaluating a pediatric patient with ataxia is crucial on the road to diagnosis [18]. A detailed anamnesis, clinical history, neurologic and physical examination, and EMG findings can facilitate the diagnosis of the disease [19]. Electrophysiological examination of ataxia patients can provide important clues in the differential diagnosis [20]. ...
Background
The genetics of hereditary ataxia (HA) are complex and multigenic. The diversity of genes that cause ataxia varies considerably between populations. We aimed to investigate the clinical, neuroimaging, and genetic findings of HA in children from a tertiary center in Turkey.
Methods
The clinical and neuroimaging evaluations of patients, laboratory investigations, and molecular genetic evaluations of those with ataxia were performed at the pediatrics, pediatric neurology, and genetics outpatient clinics between October 2020 and October 2021. With repeated expansions in the ATXN 1, 2, 3, 7, and 8 genes for spinocerebellar ataxia (SCA) and FXN genes for Friedreich’s ataxia (FA), whole-exome sequencing (WES) was used to analyze every patient.
Results
25 patients from 24 families had ataxia and an unsteady gait as their main symptoms. The patients had a mean age of 8.5 ± 3.78 years, and the symptoms had begun at a mean age of 2 ± 0.62 years; five of these were males and three were females. A genetic cause of ataxia was found in 8/25 patients (32%). Seven of the eight gene mutations detected in the patients were novel mutations. Spinocerebellar ataxia was found in 16% of cases (n = 4), L-2-Hydroxyglutaric aciduria was found in 12% of cases (n = 3), and ataxia-telangiectasia was found in 4% of cases (n = 1).
Conclusion
Our research adds to the body of knowledge by describing the clinical and genetic traits of HA patients in our area and by finding unusual gene changes linked to ataxia.
... INTRODUCTION (1) The term "ataxia" was first used to describe a variety of uncoordinated symptoms associated with multiple disorders, such as gait, movement, and heartbeat. Romberg's sign was positive in Cerebellar Ataxia individuals; common symptoms include walking slowly, rolling, and so on. ...
Cerebellar ataxia can be induced by a variety of factors, and symptoms include a lack of coordination in one's balance and cadence, extremities, as well as eye movements. Cerebellar ataxia leads to cerebellar dysfunction with impaired balance and shows Romberg’s sign positive as assisted by the therapist. Suspension therapy is given to bear patients’ weight and improve their gait by supporting their bodies. Treadmill training to assist gait speed, gait endurance, and step length of the patient. Rehabilitation techniques are used to control balance and coordination. As a result Gait variability is common and can be caused by a union of equilibrium issues, a lack of synchronization between the limbs, postural activity, and leg movement facilitation. The unprejudiced study is to ascertain the potential of assistive and rehabilitative technology in cerebellar ataxia. This study was taken from different data sources here four databases were used for searching the last fifteen years of research articles. Here articles for cerebellar ataxia on assistive and rehabilitation were chosen for study. Assistive techniques like bruce protocol, treadmill, and suspension therapy are useful in various cerebral dysfunctional conditions, but this study focuses on cerebellar ataxia.
The evaluation of balance and postural stability holds significant importance in both medical rehabilitation and daily life. However, the clinical method is hindered by the inconvenience of immobility and relatively high costs associated with the force platforms. Wearable sensors, such as accelerometers, have emerged as an alternative solution, overcoming the limitations of traditional force platforms. Thus, the purpose of this study is to utilize data obtained from a low-cost, portable, small-sized IMU (specifically an accelerometer) to predict indicators derived from force platform devices. A miniaturized and portable acceleration test equipment was proposed. Together with the random forest algorithm, our classification method achieved classification results with accuracy, recall, precision, f1-score, and specificity scores above 95%, This study provides a more portable and highly accurate tool for assessing balance ability.
