View clinical trials related to Ataxia.
Filter by:The objectives of this study are: - To validate the inter-rater and intra-rater reliability of a new scale for the assessment of ataxia and neurologic dysfunction (STAND) - To assess common constructs and correlation between STAND subscale items.
Spinocerebellar ataxia (SCA) is a hereditary disorder with movement incoordination. The ataxia performed low intra-cortical facilitation mainly due to the degenerative cerebellum. Noninvasive sensory stimulations such as peripheral electrical stimulation were reported to modulate the excitability of the motor excitability. Neuromuscular electrical stimulation (NMES) was proposed as a neuromodulation tool for the aberrant motor excitability on the SCA. This study aims to investigate the effect of NMES on the motor excitability in the SCA, and the differentiation on the central or peripheral motor excitability changed by the NMES.
The primary objective of this study is to investigate whether the treatment with IFN gamma can induce significant accumulation of frataxin in FRDA patients, a possibility suggested by pre-clinical evidence in an animal model of the disease.
The Cerebellum contains ten percent of the total volume of the brain and receives brain, spinal cord and vestibular sensory input. The organization of vestibular and somato-sensory afferent informations are also reported to be impaired in patients with cerebellum dysfunctions. Ataxia and impaired balance control are common symptoms in individuals with spinocerebellar ataxia (SCA). Previous studies have shown that patient with cerebellar damage are usually agonist and antagonist muscle coordination problem. Past studies also found the regulation of reciprocal Ia inhibition was impaired in patients with spinaocerebellar ataxia. In chronic phase, weakness might be developed due to deconditioned. All deficits mentioned above might lead to a decrease functional ability. Therefore, increasing somato-sensory and vestibular input, normalizing the modulation of recriprocal inhibition, and improve muscle strength might be able to improve the functional abilities of individuals with SCA. Recently, whole body vibration (WBV) has been trained for health groups. Studies showed that WBV training were able to improve muscle strength, balance control, and functional ability. However, there is no evidence showed that whether the whole body vibration training can affect the brain and spinal cord for the regulation of neural circuits. Whether also can affect for maximal voluntary contraction and improve central fatigue. No previous studies that whole body vibration training for SCA. Therefore, the purpose of this research was to investigate the intracortical facilitation and inhibition, reciprocal Ia inhibition, low frequency depression, maximal voluntary contraction, interpolated twitch technique to compare the different between the SCA and health subject. Also to investigate the short term and long term effect of WBV.
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g) could raise frataxin protein levels in both cell lines derived from patients with Friedreich ataxia and in a mouse model with Friedreich ataxia. The present study will test whether IFN-g is safe, tolerated and potentially efficacious in a heterogeneous cohort of children with FRDA.
The purpose of this protocol is to (1) Determine whether a one-on-one mindfulness meditation intervention or audio training improves performance on an adaptive communication system that utilizes brain-computer interface (BCI); and (2) Determine whether the intervention reduces stress in subjects with severe speech and physical impairments (SSPI). Hypothesis: The group of subjects randomized to the mindfulness meditation training will improve BCI performance and stress levels more than the audio control group.
The purpose of this study is to evaluate the effects of EPI-743 in patients with Friedreich's Ataxia point mutations
The project will collect information on the mapping of clinical ratings on a number of scales that are used in the assessment of patients with ataxias.
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of dominantly inherited progressive ataxia disorders. More than 30 different gene loci have been identified so far. The most common SCAs, which together account for more than half of all affected families, are SCA1, SCA2, SCA3, and SCA6. Each of these disorders is caused by a translated CAG repeat expansion mutation. SCA1, SCA2, and SCA3 usually have an onset between 30 and 40, and SCA6 usually begins at the age of 50 to 60. In addition to progressive ataxia, SCA1, SCA2, and SCA3 frequently present with additional non-ataxic symptoms, including parkinsonism. Carbidopa/levodopa was found to have a good therapeutic effect on parkinsonism. The SCA6 used to be considered a pure cerebellar disorder. However, a recent large study on natural history of SCAs found that patients with SCA6 often had nonataxia symptoms, an observation that challenges the view that SCA6 is a purely cerebellar disorder. Parkinsonism in SCA6 was rarely reported, except in a case serial, or a small size study in Korean patients. Dopamine transporter (DAT) is a very reliable dopaminergic neuronal marker. Reduction in DAT density detected by I123 SPECT DaTscanTM in the dopaminergic neuron terminal striatum was reported in one small size study consisting of eight SCA6 patients in Korea. There was also a PET study using different radioligand for DAT in a small group of SCA6 patients in Germany, which found sub-clinical change in DAT density in some patients with SCA6. There has been no study so far in the US on parkinsonism and other non-ataxia spectrum and striatal dopaminergic damage in SCA6, probably because non-ataxia feature of SCA6 hasn't received much attention, and also because DaTscanTM hasn't been clinically available in US until recently. The only two published studies on SCA6 and DAT were from Korea and Germany, which were of small subject size. There has been no treatment available for SCA6 so far. Our hypothesis is that parkinsonism and other non-ataxia spectrum and striatal dopaminergic neurodegeneration are part of the SCA6 disease spectrum.
The objectives of the study are: - To evaluate the safety and tolerability of single and multiple oral doses of VP 20629 in subjects with Friedreich's ataxia (FA). [Primary] - To characterize the pharmacokinetics of VP 20629 by investigation of the plasma concentration-time profile following single and multiple oral doses in subjects with FA. [Secondary] - To investigate the pharmacodynamic effects of VP 20629 on plasma 8-isoprostane and malondialdehyde and urinary 8-hydroxydeoxyguanosine concentrations following multiple oral doses in subjects with FA. [Exploratory]