Cognition In Cerebellar Degeneration: Correlations With Lateral Neocerebellar Dysfunction And Atrophy
Funder
National Health and Medical Research Council
Funding Amount
$205,500.00
Summary
Diseases of the main brain coordination centre (the cerebellum) were once thought to impair only movement skills. However, effects on thinking, and especially on mental flexibility and rational planning, are increasingly being reported. These cognitive difficulties may hinder rehabilitation. They also often cause tension within the sufferers' families if other family members are not aware that such difficulties are part of the disease and beyond the sufferers' control. We will test how common su ....Diseases of the main brain coordination centre (the cerebellum) were once thought to impair only movement skills. However, effects on thinking, and especially on mental flexibility and rational planning, are increasingly being reported. These cognitive difficulties may hinder rehabilitation. They also often cause tension within the sufferers' families if other family members are not aware that such difficulties are part of the disease and beyond the sufferers' control. We will test how common such thinking difficulties are in patients with different inherited forms of incoordination, and determine what aspects of thinking are particularly affected. We will see whether the severity of movement incoordination predicts the extent of thinking disruption, as different but neighbouring parts of the cerebellum seem to be involved in each. We will also use magnetic brain scans (MRI's) to check that the thinking problems are not caused by shrinkage of other parts of the brain in these diseases.Read moreRead less
ATM Activation And Its Functional Importance In DNA Damage Response
Funder
National Health and Medical Research Council
Funding Amount
$555,541.00
Summary
ATM is the protein deficient in the human genetic disorder ataxia-telangiectasia (A-T). This syndrome is characterised by neurodegeneration and increased risk of cancer. ATM recognises damage in DNA and facilitates its repair to minimize the risk of genetic defects. The project is designed to investigate the mechanism of activation of ATM. This information is important to understand the role of ATM in preventing cancer.
Does Rehabilitation Increase The Functional Independence Of People With Friedreich Ataxia?
Funder
National Health and Medical Research Council
Funding Amount
$81,811.00
Summary
Friedreich Ataxia (FRDA) is a disease which reduces the ability to walk. People decline rapidly and are usually dependent on a wheel-chair by 20-30 years of age. This research will examine the impact of changes in leg function, including strength and balance, on the capacity to walk. This research will determine if rehabilitation can improve walking ability and reduce the decline in FRDA. The results of this research will ensure people with FRDA are provided with the most appropriate care.
Multi-dimensional Monitoring Of Cognition And Cerebellar Function To Prospectively Define Disease Progression In Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$1,462,250.00
Summary
Multiple Sclerosis (MS) is an autoimmune degenerative brain disease that cost Australia >$1.7 billion/year in lost productivity. An estimated 50% of people with MS (pwMS) develop unrelenting, progressive disability (secondary progressive MS, SPMS). SPMS is currently diagnosed retrospectively by observing inexorable worsening in neurological function without relapses for > 6 month
Mechanisms Of Ataxia In Spinocerebellar Ataxia Type 1 Transgenic Mice
Funder
National Health and Medical Research Council
Funding Amount
$361,158.00
Summary
Degeneration of the coordination part of the brain (cerebellum) causes ATAXIA. There are many types, but few can be cured. The majority, affecting ~ 3,000 Australians, are progressive, and can only be helped by physical therapies. We are searching for a drug to improve the SYMPTOMS of ataxia, by analysing the chemical transmitters in the cerebellum in genetically ataxic mice. If we find an imbalance, we will trial appropriate drugs to try to correct this and lessen ataxia.
Balance disorders are very common, but particularly in those conditions that involve the brain 'balance centres' are often difficult for doctors to diagnose. When diseases are difficult to diagnose, then recommending helpful treatment is particularly challenging. We will use a group of specialized tests to better understand these balance conditions in order to help patients receive accurate diagnoses and therefore, better treatment.
Balance disorders are very common, but particularly in those conditions that involve the brain 'balance centres' are often difficult for doctors to diagnose. When diseases are difficult to diagnose, then recommending helpful treatment is particularly challenging. We will use a group of specialized tests to better understand these balance conditions in order to help patients receive accurate diagnoses and therefore, better treatment.
I am a physiologist investigating how the brain controls balance and movement. Many neurological disorders cause unsteady balance and problems with movement, and consequently a poor quality of life. I study people with disorders of the sensory and movement processing areas of the brain to discover how the brain combines different sensory information to control balance. This work will improve understanding of human balance and movement, and lead to new clinical techniques for assessment and treat ....I am a physiologist investigating how the brain controls balance and movement. Many neurological disorders cause unsteady balance and problems with movement, and consequently a poor quality of life. I study people with disorders of the sensory and movement processing areas of the brain to discover how the brain combines different sensory information to control balance. This work will improve understanding of human balance and movement, and lead to new clinical techniques for assessment and treatment.Read moreRead less
Characterisation Of Neuregulin-2 Function In The Nervous System.
Funder
National Health and Medical Research Council
Funding Amount
$183,250.00
Summary
The Neuregulins (NRG's) are a family of four structurally related growth factors expressed in the developing and adult brain. NRG-1 is essential for life and has been implicated in the development and maintenance of both neurons and glial cells, as well as being essential for normal heart formation. NRG-2 was identified by us and others as being closely related to NRG-1 and, like NRG-1, it is also expressed predominantly in neuronal populations of the brain. One striking feature of NRG-2 express ....The Neuregulins (NRG's) are a family of four structurally related growth factors expressed in the developing and adult brain. NRG-1 is essential for life and has been implicated in the development and maintenance of both neurons and glial cells, as well as being essential for normal heart formation. NRG-2 was identified by us and others as being closely related to NRG-1 and, like NRG-1, it is also expressed predominantly in neuronal populations of the brain. One striking feature of NRG-2 expression in the adult brain is its localisation to regions associated with neurogenesis (renewal of neurons from stem cell precursors). Outside the nervous system Neuregulin-2 can stimulate the proliferation and differentiation of epithelial cells. However, little is known about the activity of Neuregulin-2 in the brain. This grant proposal aims to study the biological functions of Neuregulin-2 in the developing and adult central nervous system. The experimental design is based on characterisation of mice that do not contain the Neuregulin-2 gene. We will also look specifically at the action of Neuregulin-2 on discrete populations of neuronal cells, grown in tissue culture. We expect that these studies will provide valuable insight into the role of NRG-2 in the brain and that they will be the basis for defining the mechanisms by which NRG-2 activity differs to that of the NRG family members. By studying factors that are involved in the development of the nervous system it is hoped that valuable insights will be made regarding repair and regeneration in the adult brain.Read moreRead less
Bipolar affective disorder (BP), or manic-depressive illness, is a major cause of disability and mortality worldwide. It has a lifetime prevalence of about 1% and suicide risk of about 20%. The disorder is characterised by episodes of mania or hypomania and depression, appearing in varying succession, with or without intermission. Twin, family, and adoptive studies point to a strong genetic component leading to the development of bipolar disorder, with a heritability of the order of 80%. Yet the ....Bipolar affective disorder (BP), or manic-depressive illness, is a major cause of disability and mortality worldwide. It has a lifetime prevalence of about 1% and suicide risk of about 20%. The disorder is characterised by episodes of mania or hypomania and depression, appearing in varying succession, with or without intermission. Twin, family, and adoptive studies point to a strong genetic component leading to the development of bipolar disorder, with a heritability of the order of 80%. Yet the identification of the genetic basis of the disease has proved exceedingly difficult, with numerous studies producing no definitive data. The lack of convincing results has been interpreted as an indication of complex genetic mechanisms and underlying differences between affected families and ethnic groups. Genetically isolated populations, where most individuals descend from a small number of founders, are believed to hold great potential for understanding the genetic basis of complex diseases, such as bipolar disorder. Affected subjects in such populations are likely to share the same predisposing genes, making these genes easier to identify. During the last 10 years, we have been involved in the study of bipolar disorder in one such population, with very promising results. In this project, we propose to take the research further by collecting more affected families, confirming the current positive findings and narrowing down the search to a small region, possibly a single gene. If successful, the study will be a major breakthrough which, by identifying a molecular pathway and disease mechanism, will contribute valuable and generally valid information on the biological basis of mood disorders.Read moreRead less