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Improving Upper Limb Function In Hereditary Cerebellar Ataxia
Funder
National Health and Medical Research Council
Funding Amount
$437,034.00
Summary
Friedreich ataxia (FRDA) causes in-coordination and muscle weakness which may result in the affected person being unable to walk or use their arms effectively. In-coordination is a result of destruction of nerves in the spine and the area of the brain that controls movement (cerebellum). This study will assess the use of brain stimulation to improve coordination and function in people with FRDA. The results of this study may also result in treatments for similar inherited cerebellar ataxias.
A Longitudinal Neuroimaging Study Investigating Reorganisation Of Cerebellar-cerebral Networks In Friedreich Ataxia
Funder
National Health and Medical Research Council
Funding Amount
$816,908.00
Summary
Friedreich ataxia (FRDA) causes debilitating motor and cognitive deficits. We propose a longitudinal multi-modal magnetic resonance (MR) imaging study to measure different types of tissue in the brain in this disease. We seek to understand how the brain reorganises itself due to cell loss in the spinal cord, cerebellum and cerebral cortex. This study will establish sensitivity of a range of MR imaging measures as potential biomarkers for use in large multi-centre drug trials in this disease.
Does Coeliac Disease Cause Ataxia Or Cognitive Impairment?
Funder
National Health and Medical Research Council
Funding Amount
$606,013.00
Summary
Coeliac disease (CD) is due to an allergy to a protein (gluten) found in wheat, barley and rye. It classically causes disease of the small bowel, resulting in impaired absorption of important nutrients, and is treated by a restrictive diet eliminating foods containing extracts of these grains. However, it has recently been found that CD is much commoner than previously thought (about 1 in 100-200), and often causes only non-specific symptoms. Two important conditions linked to CD by some, but no ....Coeliac disease (CD) is due to an allergy to a protein (gluten) found in wheat, barley and rye. It classically causes disease of the small bowel, resulting in impaired absorption of important nutrients, and is treated by a restrictive diet eliminating foods containing extracts of these grains. However, it has recently been found that CD is much commoner than previously thought (about 1 in 100-200), and often causes only non-specific symptoms. Two important conditions linked to CD by some, but not all, researchers are ataxia (incoordination) and impairment of thinking and memory. The problem is that many normal people (12% of the population) have antibodies to gluten, so that studies suggesting that sensitivity to gluten, as determined by the presence of antibodies, causes these brain disorders are not conclusive. That is, this could be a chance association. Furthermore, there is some evidence that damage to the coordination part of the brain (the cerebellum) from other causes may also cause antibodies to gluten. It is quite possible that antibodies to the cerebellum can cross-react with gluten, and vice versa. In this case, treating patients with ataxia and antibodies to gluten with the restrictive diet may be treating the result rather than the cause of the disorder. This project will study patients with CD (proven on small bowel biopsy) with sensitive, objective methods, including MRI, electronic measures of coordination, and psychological tests of thinking and memory, to see whether CD really is associated with these two problems. It will also study coordination and brain structure in a mouse model of CD. If the associations are proven, all patients with these disorders will need to be tested for CD, and treated with the restrictive diet if found to be positive. If not, clinicians will be confident that testing for anti-gluten antibodies would be irrelevant and misleading in these two situations.Read moreRead less
Mechanisms Of Lesion Localization In Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$411,228.00
Summary
Multiple sclerosis (MS) is a chronic disease that affects all areas of the brain and spinal cord (central nervous system or CNS), leading to a huge variety of clinical symptoms and signs, depending upon which parts of the CNS are affected. MS affects about 2 million people worldwide, with the onset of disease often between 20-40 years of age, at a time when family and work commitments are often at their peak. There is no cure for MS, and most people who develop this disease become more and more ....Multiple sclerosis (MS) is a chronic disease that affects all areas of the brain and spinal cord (central nervous system or CNS), leading to a huge variety of clinical symptoms and signs, depending upon which parts of the CNS are affected. MS affects about 2 million people worldwide, with the onset of disease often between 20-40 years of age, at a time when family and work commitments are often at their peak. There is no cure for MS, and most people who develop this disease become more and more disabled over their lifetime. MS is an autoimmune disease, i.e. one's own immune system starts to see the CNS as something foreign that needs to be targetted and eliminated. Previously, it has been considered that there are no particular reasons why people with MS develop lesions in the specific parts of the CNS that they do, i.e. it has been thought to be a fairly random event. However, we have recently shown that there are clear correlations between the development of lesions in some parts of the CNS, the particular molecules within the CNS that are being targetted by the immune system, and some genes that control the immune system that are carried by people with MS. The aim of the current study is to work out the mechanism(s) by which autoimmune reactivity targets lesions to different parts of the CNS. We will focus on one target molecule known as myelin proteolipid protein or PLP. People with MS who carry certain immune-related genes are more likely to have immune cells that target PLP, and our work strongly suggests that this subsequently leads to the development of lesions in the brainstem or cerebellum. This work has implications for disease pathogenesis, prognostication and therapy for MS, as a knowledge of patterns of autoimmune reactivity that lead to particular clinical outcomes will improve our ability to give people with MS an idea of they symptoms they might experience and allow specific therapies to be given to patients who will benefit most from them.Read moreRead less