The Genetics of Huntington’s Disease from A to Z

Join certified genetic counselors for a free talk focusing on the HDSA protocol for getting tested for Huntington’s disease, the steps involved in the process, and the process for planning a family. This talk will be moderated by Dr. Lauren Seeberger who is the director of the HDSA Center of Excellence at the University of Colorado.

Who: people with Huntington’s disease, their care partners, families, and anyone interested in learning more about Huntington’s Disease.
What: a free educational presentation followed by live questions from the audience
Where: virtually via Zoom, please register here to receive the link

This event is funded by the Huntington’s Disease Society of America with support from Genentech and uniQure.

Please register for the event to receive the link.


Emily Todd, MS, CGC works as a genetic counselor at the Adult Medical Genetics Program through the University of Colorado Health system. Ms. Todd has a master’s degree in Human Genetics and is a board-certified genetic counselor. She has worked with patients at UCHealth for 19 years in varied areas of genetics including preconception counseling, prenatal counseling, and general genetics for adults. At her current position, she provides genetic counseling for individuals and families related to predictive testing for neurologic conditions including Huntington’s disease.

Kaity Smith, MS, CGC is a board-certified genetic counselor and is currently completing her Neuromuscular Rare Diseases Genetic Counseling Fellowship. She works with the Department of Neurology in the Neurogenetics Clinic. Ms. Smith graduated from UC Davis with a BS in Neurobiology, Physiology, and Behavior and a BA in Psychology. She completed her MS in Genetic Counseling from the Arcadia University/University of Pennsylvania program.

Hannah Elfman, MS, CGC is a board-certified genetic counselor in the Prenatal Diagnosis and Genetics Department at the University of Colorado Hospital. Her role is to provide risk assessments for patients to have a pregnancy with a genetic condition based on personal and family history, discuss options for preconception, and prenatal genetic testing, interpret results of genetic tests, and support women and couples in making informed decisions about their pregnancy. She also works along with team members at the university to offer bereavement support for patients and their families.

 

Research Update | The Relationship Between Olfactory Dysfunction and Constipation in Early Parkinson’s Disease

Written by Alex Baumgartner, MD

In a recent issue of the journal Movement Disorders, colleagues and I published a study examining the relationship between two of the most common ‘non-motor’ symptoms of Parkinson’s disease (PD): decreased sense of smell (olfactory dysfunction) and constipation. It has been known for some time that these symptoms often start several years or even decades before the typical ‘motor’ symptoms of PD, which include tremor, stiffness, and slow movement. Going along with this, accumulation of the abnormal protein alpha-synuclein, which is thought to play a critical role in the development of PD, have been found in the nasal passages and GI tracts of PD patients before it is found in the brain. This has led many to hypothesize that PD may actually begin in the nose or in the gut and spread from there to the brain.

We wanted to explore whether we could find evidence that for some people, PD begins in the nasal passages while in other people, it begins in the gut. We hypothesized that if people had PD originating in the nasal passages only, they would have only loss of smell and not constipation. On the other hand, if PD originated in the GI tract only, they would have constipation but not loss of smell. We looked at data from the Parkinson’s Progression Markers Initiative (PPMI), which collects information from patients who have recently been diagnosed with PD.

movement disorders specialist colorado

We found that at the time people are diagnosed with PD, they tend to have problems with smelling and constipation to similar degrees. That is, people with worse sense of smell also tend to have worse constipation, and those with minimal loss of smell tend to have mild constipation. This finding actually went against our hypothesis. There may be a few reasons for this. The first is that the time of diagnosis of PD (based on tremor, slowness, and stiffness) may be too late to detect a difference in smell and constipation. Even if PD begins in either the nose or the gut, symptoms in the other location may have already ‘caught up’ with the first. The second possible explanation is that PD may begin in both locations at about the same time. This is called the dual-hit hypothesis, and has gained popularity in recent years. In the future, we hope to expand our research to help elucidate where and when the earliest signs of Parkinson’s occur.

Sleep and Fatigue in Parkinson’s

movement disorders specialist colorado

Sleep issues and fatigue are common among people with Parkinson’s disease. Sleep issues can include insomnia, daytime sleepiness, restless legs, and REM sleep behaviour disorder. Fatigue is a separate but related issue that often overlaps with daytime sleepiness. Join the Parkinson Association of the Rockies and Dr. Alexander Baumgartner, University of Colorado Movement Disorders Center, to discuss the issue of sleep and fatigue and some possible remedies.

Dr. Baumgartner, was born and raised in Lakewood, CO. He obtained his medical degree in Providence, RI and completed his residency training in Boston, serving as chief resident in his final year. He is excited to begin a 2-year fellowship in Movement Disorders in July 2020, and also to be returning home to Colorado.

Visit the registration website to reserve your spot today.

Board Certification

Congratulations to our two first-year fellows, Alex Baumgartner, MD and Michael Korsmo, MD, for passing their neurology board examinations through the American Board of Psychiatry and Neurology!

When we select fellows for our training program, they must be eligible to take these board examinations. This means they must meet all of the minimum requirements to take the exam by the start of their fellowship training. Fellows typically take the test towards the end of their first semester which is the earliest the test is offered.

Board certifications are important because they promote and assess the competence of physicians when beginning and throughout their careers. Board-certified physicians must provide proof that they are continuing their education through Continuing Medical Education credits and are recertified at set intervals throughout their career.

While board certifications are not required to practice medicine, they are an extra step many physicians choose to take. The certifications demonstrate the physicians are keeping up with the most recent advancements in their specialties and their desire to provide high-quality care to their patients. Board certifications are specific to each specialty and therefore maintain more specific standards to maintain certifcation.

All of the movement disorders specialists at the University of Colorado Movement Disorders Center are board-certified in neurology.

Say congratulations to our fellows if you see them in clinic!

2nd Annual Patient Commemoration Event

This is a non-denominational service where we honor our patients who have recently passed and their families.  The focus is on remembrance and healing.  Last year’s event was our first time doing it and it was an incredible experience.  This year’s event will be held virtually; while not ideal, we felt it was important enough for our patients’ families that we decided to move forward.  To protect our patients’ privacy, we are asking interested parties to email us at Neuro-Palliative@ucdenver.edu or call our administrative partner Candace Ellman at 303-724-2194 and she will send them the zoom link to connect.