View clinical trials related to Cerebellar Ataxia.
Filter by:Ataxia Telangiectasia (A-T) is an autosomal recessively inherited neurodegenerative disorder that also has dramatic effects on the immune and endocrine systems. The disorder results from mutations in the A-T mutated gene (ATM) leading to a loss in the production of the ATM protein. The active compound in MBM-01 (4-hydroxy-2,2,6,6-tetramethylpiperidine-1-oxyl) may substitute for the loss of ATM by protecting cells from DNA damage, preventing and reducing oxidative damage, triggering an increase in cellular survival proteins, and preserving the brain and peripheral immune system.
The present study aims to define a protocol of electrical stimulation of the cerebellum via transcranial direct current stimulation (tDCS) combined with a virtual reality protocol to assist the rehabilitation of social skills in adolescents and young adults with childhood ataxia. Taking into account the high neuronal density of the cerebellum, its strong connection with the cerebral cortex, and its involvement in motor, cognitive and affective processes, as well its involvement in social prediction abilities, the investigators hypothesized that excitatory stimulation of the cerebellum might improve social prediction abilities in adolescents and young adults with childhood ataxia. Moreover, as suggested by previous studies investigating the effect of tDCS in paediatric population, the investigators expected that tDCS will be safe and well tolerated. Such a result would encourage the use of non-invasive brain stimulation in the rehabilitation of social skills in childhood ataxia.
Autoimmune encephalitis (AE) are characterized by subacute onset of memory deficits, altered mental status or psychiatric symptoms, frequently associated with seizures, inflammatory cerebrospinal fluid and in cases with prominent limbic involvement, typical magnetic resonance imaging. Several autoantibodies (Ab) may be detected in AE, although its detection is not mandatory to establish a diagnosis. These Ab mainly recognize different synaptic and cell-surface proteins in the central nervous system, and are thought to be pathogenic as they alter the normal location or function of its antigens. The primary trigger of the immune response is unknown for most of AE. In addition to acquired susceptibility, genetic predisposition may also be important in the pathogenesis of AE. Human leukocyte antigen (HLA) is the genetic factor most frequently associated with autoimmune diseases, due to its genetic complexity and key role in the adaptive immune response. The aim of the study is to describe HLA profile in three groups of autoimmune encephalitis and related disorders: anti-LGI1, anti-CASPR2 and anti-GAD neurological diseases.
Neurodegenerative ataxia represents a group of disabling diseases. No effective treatment is currently available for them. Currently, studies are going on the effectiveness of noninvasive neurostimulation in neurodegenerative diseases. Transcranial pulsed current stimulation (tPCS) is a new modality of noninvasive neurostimulation. The investigators have planned to study the efficacy of tPCS in these patients of neurodegenerative ataxia. Patients will be first examined clinically along with the rating of ataxia, assessment of upper limb coordination and speech as per protocol. Quantitative Electroencephalography (qEEG) and gait analysis will be done as per protocol. Next, a single session of 20 min non-invasive stimulation will be given via tPCS or sham stimulation. Stimulation will be given to cerebellum and dorsal spinal cord. After 20 mins of stimulation, re-assessment will be done using the same tools mentioned pre-stimulation.
The purpose of this study is verify the safety and efficacy of Human Umbilical Cord Mesenchymal Stem Cells (UC-MSC) therapy for patients with Spinocerebellar Ataxia, and in addition, explore the possible mechanisms of UC-MSC therapy in Spinocerebellar Ataxia.
Ataxia-telangiectasia (AT) is a rare genetic disorder characterized by gait disorders, neuromotor dysfunction, eye abnormalities and immune deficiency. AT patients are vulnerable to cancer and infection and usually die during their 2nd or 3rd decade due to these complications. The main cause of death is respiratory infections because these patients are known to have severe type of immunodeficiency. Consequently, pneumonia is the most common infection seen in AT patients, and is usually caused by S. pneumoniae. Therefore, a routine schedule of pneumococcal vaccine is highly recommended in AT cases where immunoglobulin replacement therapy was not already initiated. Until recently, AT patients were immunized with the pneumococcal polysaccharide vaccine (PPV23, Pneumovax® Aventis Pasteur MSD). However, data have shown that they do not respond well to these vaccines. Recently, the Israeli Ministry of Health has approved the pneumococcal 7-valent conjugate vaccine (PCV7, Prevenar®, Wyeth Lederle) for AT patients of all ages. This conjugate vaccine is known to stimulate the immune system through a different mechanism and the response is expected to be higher. The approved Israeli schedule for immunization of AT patients includes children older than 2 years that are entitled to receive 2 doses of PCV7 (8 weeks apart) boosted by PPV23, eight weeks after the second dose of PCV7. Assessment of the antibody response of such pneumococcal vaccination protocol in AT patients has never been performed. The "Safra" Children's Hospital is the national multi-disciplinary center caring for AT patients. Approximately 50 patients from all over the country (including Jewish, Druze, Bedouin and other Muslim patients - 3 of whom are Palestinians) are followed in the clinic on a monthly basis. Approximately 20 AT patients are not receiving IVIG replacement therapy, therefore are entitled to receive pneumococcal vaccination as stated above (mean age 10.6, 3 -23 years, 3 less than 5 years) The aim of this study is to evaluate the responsiveness, determined by specific antibody production, of AT patients receiving this new vaccine protocol.