Clinical FeaturesNeurology

Recognising Brain Awareness

National Brain Awareness Week is an annual initiative organized in March each year by the Neurological Alliance of Ireland to promote greater awareness and understanding of the impact of living with a neurological condition as well as the need for investment in services, research and prevention. The Neurological Alliance of Ireland is the national umbrella group for neurological charities.

In Ireland, almost 800,000 people are affected by a neurological condition, and up to 1 in 8 consultations in primary care and at least 1 in 5 in emergency medical admissions to hospital are because of a neurological problem.

Neurological diseases range from those that are invisible but quality of life- threating (e.g epilepsy, migraine etc) to those that are associated with severe and progressive physical and / or cognitive decline (e.g. motor neurone disease , Parkinson’s Disease Alzheimers Disease).

Neurological conditions affect all age groups from the young, the economically active and older people. While some neurological conditions are easily recognizable as they are associated with obvious signs (e.g. established Parkinson’s or Alzheimer’s disease) others can be difficult to diagnose as they are based on history (e.g the epilepsies, migraine etc), or because the early signs may be subtle and generate a wide differential diagnosis (e.g. early motor neuron disease). However, the majority are long term conditions necessitating specialist and multidisciplinary health care throughout life.

Clinical Neurology is concerned with the prevention, diagnosis, treatment, and care of people with disorders of the brain and spine. While clinical history and physical examination remain the cornerstone of neurological diagnosis, advances in neuroimaging, blood and CSF based biomarkers, and neurophysiology have enabled refinement of the diagnostic process and have supported treatment planning. For example, modern imaging has altered the classification of Multiple Sclerosis, which is now based on patterns of active inflammation on MRI; a diagnosis of Parkinson’s Disease can be confirmed by a DAT scan, and PET imaging is helpful in subclassifying different types of dementia. Similarly, CSF biomarkers can help to segregate different types of neurodegeneration, and the presence of elevated levels of neurofilaments can help to predict prognosis in both Multiple Sclerosis and Motor Neuron Disease. Advances in neurophysiology, along with detailed neuroimaging can help to localize seizures and guide surgical resection in selected cases.

Advances in neural engineering are driving technologies such as deep brain stimulation for Parkinson’s Disease. Modern genomics can provide categorical diagnoses, as exemplified by the identification of the gene for Duchenne Muscular Dystrophy in 1988, and for Huntington’s Disease 1993. The completion of the Human Genome mapping project has led to the discovery of a multitude of additional genes that have provided greater understanding of the pathobiology of a wide range of neurological conditions. These insights have in turn driven interest and investment in drug discovery for diseases for which effective treatments remain elusive.

Indeed, the past 10 years have witnessed exciting developments in effective targeted pharmacological treatments for many neurological conditions.

Targeted immunomodulatory therapies have revolutionized the treatment of multiple sclerosis, such that a newly diagnosed patient can be assured of minimal disability and an excellent quality of life. Genome based therapies are firmly on the horizon for many hereditary conditions. Spinal Muscular Atrophy, a motor neuron degeneration of childhood, is now a treatable disease, as is the adult form of motor neuron disease associated with mutations in the SOD1 gene. Pharmacogenomics can help the selection of appropriate treatments for some forms of epilepsy. And while early trials in Huntington’s disease have been disappointing, exciting new trials are in progress.

But early access to specialist services remains a problem , and optimal management remains accordingly curtailed for many Irish citizens. In some instances such as Relapsing Remitting Multiple Sclerosis, we have learned that failure to treat in the early phase of the illness can lead to increased disability in later years. The same is true for poor controlled epilepsy. And increased neurological disability of all types has an adverse effect on all aspects of life.

While services have improved over the years with an increase in the number of Neurologists and the appointment of advanced practitioners and specialist nurses, the requirements associated with evolution of new treatments, and greater need for surveillance continue to outpace the expansion of neurological services. We still lack critical mass to provide uniformly high standards of care across the entire country and to facilitate the necessary degree of sub-specialization. And while the value of high quality hospital-based multidisciplinary services with community outreach is recognised, there is much work to be done to develop and expand these services to all neurology centres. There is also a need to commensurately develop community based neurorehabilitation services that link with those within the acute hospitals across the country to ensure that all of those with neurological disability have uniform access to new therapeutics, and high quality multidisciplinary care as close to home as is possible.

National Brain Awareness Week takes place from 11th to 17th March 2024.

For more information on National Brain Awareness Week visit the Neurological Alliance of Ireland website or follow the conversation on social media #brainawarenessweek2024

Written by Professor Orla Hardiman, Professor of Neurology/Head of Academic, Trinity College Dublin

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