Announcing Studies for Episodic and Neurodegenerative Diseases
Dr. Ying-Hui Fu and Dr. Louis Ptacek from the UCSF Department of Neurology are performing studies to learn more about episodic diseases. These studies are aimed at identifying genes causing these diseases. Ultimately we hope to develop more effective patient treatments through a better understanding of the genes associated with these disorders.
We are currently enrolling patients suffering from periodic paralyses, Andersen-Tawil syndrome and restless leg syndrome.
University of California San Francisco
Department of Neurology
1550 4th Street
Mission Bay 19B – Rm #546
San Francisco, CA 94143-2922
Andersen-Tawil Syndrome Study (UCSF)
ATS is a condition characterized by periodic paralysis, cardiac arrhythmias and occasional other features such as cleft palate and scoliosis. For more information, see: Andersen-Tawil Syndrome in the Judy Tuttle Memorial Research Library.
Dr. Grace Yoon, Dr. Joel Kramer, Dr. Bruce Miller, Dr. Magnus Dias Da Silva and Dr. Louis Ptacek of the Neurology Department at the University of California San Francisco (UCSF) are conducting a study to learn more about Andersen Syndrome (also called Andersen-Tawil Syndrome or ATS), and we would like to invite you to participate.
We would like to invite you and one of your siblings to San Francisco for three days for this study, and we will provide travel and accommodation. If you have ATS the study procedures involved are:
A detailed medical and family history, and quality of life assessment using the SF-36 questionnaire.
A detailed external physical examination.
X-rays of your limbs, chest, back and head.
A 24-hour Holter monitor (a small pouch worn around your neck or waist for 24 hours).
EEG with photic stimulation (electrodes attached to the surface of your scalp for 30 minutes). You will be exposed to a flashing light with your eyes closed for several minutes. This does not involve needles or invasive procedures.
Blood tests to evaluate your general health and thyroid function.
If you have not had genetic testing for ATS, we will do this, and will provide you with genetic counseling.
Neuropsychological tests which will test aspects of your memory, cognition and behavior. Some of these will be paper and pencil tests and others may be computerized.
If you are a sibling of someone with ATS you will participate in the neuropsychological testing only.
Participation in this study is completely voluntary, and will require your permission. If you are interested in participating in this study please contact us, and we will send you more information.
Grace Yoon, MD, FCRP(C), FCCMG
Department of Neurology
505 Parnassus Ave., Box 0114
San Francisco, CA
Andersen-Tawil Syndrome Stem Cell Research by Dr. Jonathan Lu
My name is Jonathan Lu and I am a clinical cardiologist who specializes in heart rhythm disorders at Columbia University Medical Center. I am also a scientist with special interests in heritable arrhythmias. I plan to attend the upcoming Periodic Paralysis Association Conference and wanted to let the attendees with ATS know that there will be opportunity to further ATS research by donating some skin cells at the conference. We think this represents an important, unprecedented opportunity to advance our knowledge of ATS!
As most of you know, cardiac arrhythmia (heart beat irregularities) is an important feature of the Andersen-Tawil syndrome that can lead to dizziness, passing out, and even sudden death. Because of this, ATS is also considered one of the Long QT syndromes (LQT7).
Scientific studies have now led us to the knowledge that most ATS are caused by a mutation in a potassium channel called KCNJ2. This discovery has greatly enhanced our understanding of ATS, but many clinical and scientific mysteries remain. For example, why do families members who have the same gene defect present with different constellations of clinical syndromes? How exactly does the mutation cause heart rhythm disorders? What is the best antiarrhythmic drug for the treatment of ATS? How does the KCNJ2 mutation cause problem with muscle and bones?
In the clinical-scientific communities, we have been limited in our ability to research the answer to these questions, in large part due to our lack of access to relevant human tissues. In other words, we simply have not had access to patient’s heart, muscle, and bone tissues that will enable us to look closely at the exact consequences of the gene defects.
The great news is that now we have a way of creating heart, muscle, and bone tissues from skin cells! Some of you may have seen in the news that it is now possible to take skin cells from patients, grow them in a petri dish, and turn them into stem cells. Stem cells, especially patient-specific stem cells, are powerful tools for scientific studies because they have the potential of becoming any tissue in the body. Once we have stem cells generated from skin cells (they are called iPS cells, induced Pluripotent Stem cells), a potentially unlimited supply of heart, muscle, and bone cells will be available for research studies.
In the case of ATS, if you decide to donate some skin cells, we will produce stem cells in the laboratory, then turn them into heart cells. This means that we will be able to directly study your heart cells in the laboratory to ask important clinical and scientific questions that have previously been impossible.
I hope you will consider participating in our effort and I look forward to meeting you all at the conference! Please feel free to contact me with questions at firstname.lastname@example.org, or 212-305-0055.