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 study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.
The primary aim is to show balance training improves DCD individual's ability to compensate for their activity limitations, but does not impact disease progression. The second aim is to demonstrate aerobic exercise improves balance and gait in DCD persons by affecting brain processes and slowing cerebellar atrophy.
The aim of this study iss to analyze the effect of Lycra garments in the axial stabilization in subjects affected by ataxia, both in acquired cerebellar injuries and malformative etiology. Improvement are expected for what concerns: - greater stability during stance - smoother walking pattern - reduction of risk of fall. The two groups (acquired and malformative) will be compared.
The primary objective is to test the safety and tolerability of short-term therapy with a nicotinamide adenine dinucleotide (NAD+) precursor (MIB-626) in adults with Friedreich's Ataxia (FA) without overt heart failure and with a left ventricular ejection fraction ≥ 40%. A key secondary objective is to test the effects of MIB-626 on cardiac and skeletal muscle bioenergetics.
Friedreich's Ataxia (FA) is an autosomal recessive disease the mutation of which leads to a deficiency of a protein called frataxin, which is responsible for the symptoms of the disease. It is assumed that inducing an increase in the production of frataxin could reverse part of the disease's symptoms. Several treatments with drugs that raise frataxin levels have been tested, but they have either have not given the expected result or have induced intolerable side effects. The IRBLleida (Institut de Recerca Biomèdica de Lleida Fundació Dr. Pifarré) team has shown that calcitriol can increase the production of frataxin up to 2.5 to 3 times, a higher proportion than any of the drugs previously tested. For that reason, the next step in our research would be to check the effects of this drug (Calcitriol 0.25mcg/24h for a year) in patients with FA. On the other hand, calcitriol, the active form of vitamin D, is a drug with a very low rate of adverse effects that has been used for decades. Therefore, it is a drug with a very well established tolerability. The results of the present study, if positive, would lead to the organization of trials at a larger scale, and they would allow the use of an effective treatment for patients with FA.
Background: after resection of medulloblastoma in children they suffer from signs and symptoms of ataxia which impedes their activities of daily living. purpose: to investigate the effect motor imagery training on balance, severity of ataxia and gait parameters on children after resection of medulloblastoma. Methods: Fifty children surfing from cerebellar ataxia after medulloblastoma resection were selected from tumors hospital of Cairo University, their age ranged from seven to nine years old, they were randomly assigned into two matched control and study groups. The control groups received the selected physical therapy program while, the study group received motor imaginary training in addition to the selected physical therapy program. Both groups were evaluated by ataxic rating scale, pediatric berg balance scale and kinematic gait analysis by kinovea software.
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and balance impairments in sitting and standing. Trunk local stability during gait is lower in patients with degenerative ataxia than that in healthy adult population. Given the fact that drug interventions are rare in degenerative diseases and limited to only specific type of diseases and symptoms, physiotherapy is a major cornerstone in current therapy of ataxic gait. Core stability exercises training could be included as an adjunct to conventional balance training in improving dynamic balance and gait. Due to the nature of the interventions, the study will have a single blind design.
The study is to examine the effect of functional trunk training on trunk control and upper extremity functions in patients with autosomal recessive ataxia.
Chronic cough is a frequent cause of Pneumology consultations. CANVAS syndrome (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia Syndrome) is a progressive and disabling neurological disease that very frequently occurs with chronic cough. This cough invariably appears as a prodromal symptom that precedes neurological symptoms. The biallelic expansion of AAGGG in RFC1, a causal mutation in CANVAS syndrome, appears with high frequency in the general population. Objectives: Main: To determine the presence of biallelic expansion of AAGGG in RFC1 in patients with chronic cough, regardless of the presence of neurological symptoms. Secondary: Describe the phenotypic, functional and inflammatory characteristics of these patients. and Know the relationship between gastroesophageal reflux and chronic cough in patients with CANVAS. Method: A descriptive cross-sectional pilot study including 50 non-smoking patients between the ages of 30 and 99 years with chronic and / or refractory cough as the only manifestation or associated with gastroesophageal reflux. All patients will undergo the pertinent studies for the diagnosis of chronic cough, those who meet criteria for suspicion of gastroesophageal reflux will be requested an esophageal phmetry and esophageal manometry. Peripheral venous blood sample will be obtained for subsequent genetic analysis. Vibration sensitivity will be studied in all patients regardless of the presence of mutation. Those with alterations in vibratory sensitivity or mutations in RFC1 will be referred to the Neurology Service for a complementary neurological evaluation. For the molecular study of the DNA sample of the patients, two techniques will be used: standard Polymerase chain reaction amplification with primers flanking the intron 2 fragment of the RFC1 gene and amplification using Repeated Primed Polymerase chain reaction in 3 independent reactions.