Jee Bang, neurologist and clinical director of the Huntington’s Disease Center of Excellence at Johns Hopkins, shares an overview of Huntington’s disease — a single gene condition with motor skill, cognitive and emotional symptoms. There is no current cure. The center offers multidisciplinary care while vigorously researching mechanisms to slow disease progression and possibly delay or prevent disease onset.
Hello, I'm Dr Ji Bang, a neurologist and the clinical director of the Johns Hopkins Huntington Disease Center. We're proud to celebrate our 40th anniversary of providing premier clinical care to our patients and families as well as leading basic translational and clinical research in Huntington disease. In addition, we're celebrating our 20th year as a designated Huntington Disease Society of America Center of Excellence, Huntington Disease or H D is a progressive fatal neurodegenerative disease that is inherited in an autism or dominant manner. H D is caused by the C A G trinucleotide repeat expansion in the Huntington gene which encodes an expanded poly glutamine stretch in the Huntington protein H D has been confirmed in all races across the globe in North America and Europe. The prevalence is up to one in 10,000. Age of onset is often between 30 to 50 years with disease duration, around 15 to 20 years. Juvenile and late onset forms of H D also exist but adult onset H D is much more common. The clinical manifestations of H D involve a triad of motor cognitive and emotional symptoms. Motor symptoms commonly include Correa, bradykinesia dystonia imbalance and impaired git Correia is the most common motor symptom present in over 90% of people with H D. It is important to note. However, that other motor symptoms including in coordination, imbalance and bradykinesia can be even more disabling cognitive symptoms of H D. Predominantly involve executive function impairment including working memory deficit, poor planning and organization and impulsivity, progressing to global dementia. Emotional symptoms are very common and often disabling and may include irritability, anxiety, apathy, depression, obsessions and compulsions. We have expertise in treating these emotional symptoms which can often substantially improve outcomes. Genetic testing for an abnormal expansion of the C A G trinucleotide repeat in the disease causing huntington gene can be done either in the presymptomatic stage or to confirm clinical diagnosis. We have extensive experience in predictive testing and genetic counseling. There's currently no cure for H D. However, many symptomatic treatments are available, including those that effectively reduce Coria and improve behavioral symptoms. Vesicular monoamine transporter, two inhibitors or V two inhibitors such as tetrabenazine and Dutra Bena are effective at treating Coria and second generation neurotics can address correa and many of the emotional symptoms. Antidepressants are also commonly used to treat depression and anxiety in H D. Behavioral and social work management can be equally important and we have resources and expertise in these areas. Current clinical trials have diverse targets and modalities including gene based therapies, small molecules and immunomodulating agents. Many of which are designed to slow down the progression of H D. For example, we're using anti sens oligonucleotides and micro R N A to deliver experimental gene based therapies in clinical trials. Roots of administration range from oral to intravenous to intra thecal and intracerebral. In addition, we're studying biomarkers including brain imaging to track the brain changes in H D and predict clinical features and response to treatment. While the search for H D disease modification continues vigorously. It is critical to optimize the patient's quality of life by providing ongoing multidisciplinary care including physical therapy, occupational therapy, speech therapy, palliative care and social work support. We have a multidisciplinary clinic incorporating all these modalities. In summary, we provide an extensive array of clinical services as well as advanced clinical research with the ultimate goal of not just slowing down the progression of H D but delaying or conceivably preventing its onset being a single gene disease. H D can provide a model for other neurodegenerative diseases with the potential for preventive precision medicine. Thank you for your attention.
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