Teleneurology in Managing Rare Neurologic Diseases
In the United States, approximately 6% to 8% of the population, or 25 million people, have a rare disease.1,2 Currently, more than 6,800 conditions qualify as a rare disease, which, in the United States, is considered to be a condition that affects fewer than 200,000 persons.1,2 Subsequently, such diseases can be difficult to study. Single institutions often have small sample sizes and funding to conduct multicenter studies may be lacking. At a poster session during the American Academy of Neurology (AAN) 67th Annual Meeting, researchers studying progressive multifocal leukoencephalopathy caused by the JC virus, provided insights on how teleneurology might be used to improve rare disease research and the care of patients with rare diseases.1 Rare Disease Report had the opportunity to discuss the study in greater detail with the presenters, Igor J. Koralnik, MD, Division of Neuro-Immunology, Department of Neurology, and the Center for Virology and Vaccine Research, Department of Medicine, Beth Israel Deaconess Medical Center (BIDMC), Harvard Medical School, Boston, MA, and Shruti P. Agnihotri, MD, a former Neuro-Infectious Diseases fellow with Dr. Koralnik at BIDMC, and now at the Division of Neuro-Immunology, Department of Neurology, The University of Alabama at Birmingham.
What is teleneurology?Teleneurology is a form of telemedicine that uses diverse technologies to provide neurologic consultation from a distance. This might include telephone calls, e-mails, and videoconferencing. We also refer to this as cyberconsults.
What led you to provide teleneurology services? Please also describe your process.Because we’re involved in clinical and basic research on JCV-associated diseases at BIDMC in Boston, we receive many requests for advice on such cases. We found these requests to be time-consuming, so we came up with a process for handling them more efficiently. During the academic year 2013-2014, our neuroinfectious disease fellow Dr. Agnihotri established contact with the requestor to obtain details, imaging studies, and other potentially useful information. Because we preferred to obtain the pertinent information from patients’ primary healthcare providers, if patients or their families contacted us directly, we asked them to have their treating physician contact us. Then, once all available information was obtained, Dr. Agnihotri discussed the case with Dr. Koralnik, and our recommendations were presented to patients’ treating physicians. Patients deemed to be candidates for our research studies were presented with this option, which led some patients to come to our office for a face-to-face consultation.
What kind of requests did you receive regarding JC virus syndromes and what were your findings?We received 43 requests between July 2013 and June 2014, of which 19% originated in our home state of Massachusetts, 58% from other US states, and 23% from other countries. Based on the data we received, we identified a JC virus syndrome in 33 patients (77%) and other diseases in 8 patients (19%). We were unable to make a diagnosis in 2 cases due to insufficient data. Of the 33 patients with JC virus syndromes, 11 enrolled in our research studies. Thirteen of the 43 requests were for atypical presentations, with the majority being second opinions and inquiries related to the availability of treatment-based clinical trials.
Does teleneurology pose any challenges?Yes, teleneurology for rare diseases presents many challenges. Ethical and legal factors require careful consideration when providing medical advice without full and direct assessment of a patient, as malpractice is always a concern. Therefore, we find it prudent to take an approach that serves to guide the referring physician, such as by describing the steps we would take to establish the diagnosis and/or determine management if we were to see a similar presentation in our clinic.
What about benefits?There are definitely numerous benefits, including the satisfaction of providing assistance that is not available locally, access to an expanded pool of patients for research studies and publications, and grateful patients and families who may further support research through philanthropy.
Do you have a take-home message for healthcare providers with regard to teleneurology, or even telemedicine in general?Teleneurology is an emerging field that provides considerable promise in furthering research and improving the care of patients with rare neurologic diseases; however, the process needs to be a collaborative one, with the disease expert and referring physician working closely together to reduce the challenges and enhance the benefits, particularly when a rare disease straddles several medical specialties.
1. Agnihotri S, Koralnik I. S.O.S. Progressive multifocal leukoencephalopathy: teleneurology for a rare disease. Poster presented at: 67th American Academy of Neurology Annual Meeting; April 18-25, 2015; Washington, DC. 2. Agnihotri S, Koralnik I. Training for a neurology career in a rare disease: the role of cyberconsults. Ann Neurol. 2015;77(5):738-740.
Image "Telecare conference" by Jackhsiao - Own work. Licensed under Public Domain via Wikimedia Commons - https://commons.wikimedia.org/wiki/File:%E8%95%AD%E4%B8%AD%E6%AD%A3%E9%99%A2%E9%95%B7%E9%80%B2%E8%A1%8CTelecare_conference.jpg#/media/File:%E8%95%AD%E4%B8%AD%E6%AD%A3%E9%99%A2%E9%95%B7%E9%80%B2%E8%A1%8CTelecare_conference.jpg
By: Christina T. Loguidice
Rare Diseas Report
No cure, no 'great treatments' so far for debilitating neurological condition of ataxia, say UAB doctors
(L-R): Pelham musician and family man John Parnell is an ataxia sufferer (Tamika Mooreemail@example.com); Dr. Harrison Walker, a neurologist at The University of Alabama at Birmingham, diagnosed Parnell in 2013; Dr. Talene Yacoubian founded the UAB Ataxia Clinic in 2014 2013 (UAB photos).
John Parnell of Pelham, 34, plays guitar, bass and drums, has a recording studio in his house and has enjoyed a nearly lifelong love of music. "Making music in whatever form makes me happy," Parnell told AL.com in March.
But Parnell's days of playing instruments could be slowly coming to an end. He suffers from a degenerative neurological condition called ataxia that can gradually rob people of the use of their arms and legs.
"There's a part of your brain that controls motor functions (and) it attacks that part," Parnell said. "It's like being drunk but I'm not drinking."
"A common and debilitating symptom of ataxia is imbalance while walking, incoordination using the arms and hands during daily activities and disturbances of speech," Dr. Harrison Walker of The University of Alabama at Birmingham (UAB) Department of Neurology, who diagnosed Parnell with ataxia in 2013, told AL.com in an email.
To find out more about ataxia -- its causes, effects, diagnosis, emotional and psychological impact, and possible treatments -- AL.com turned to Walker and Dr. Talene Yacoubian, who founded the UAB Ataxia Clinic in 2014
What is ataxia?
As Parnell said, ataxia is a result of an attack on the brain. "Ataxia is usually due to damage or dysfunction of the cerebellum, which is found in the back of the brain," Yacoubian said in an email.
Ataxia -- the name comes from the Greek word, "ataxis," which means "without order" or "incoordination" -- is a broad clinical term that covers a wide variety of disorders.
In fact, ataxia is not classified as a separate disease or disorder, according to the UAB neurologists. "Ataxia is not a single disorder but a clinical description of abnormalities in coordination," Yacoubian said. "Cerebellar ataxia is a syndrome with many causes (and) is not related to a single disease," Walker said.
Many varieties, tough to diagnose
There are many different types of ataxia, and this can complicate efforts to properly diagnose it. There are "hundreds of different causes" for cerebellar ataxia, according to Yacoubian, who said that some causes are "genetic (inherited)" and many more are "sporadic or acquired."
Those "sporadic" causes can include stroke, multiple sclerosis, vitamin deficiencies, alcohol abuse, medication toxicities, autoimmune disorders, tumors and infections.
Genetic causes for ataxia are "rarer," according to Yacoubian. "There are perhaps 100-200 different genes that have been associated with ataxias, but the list of gene mutations that can cause ataxia is growing rapidly due to technological advances in gene sequencing."
Parnell's doctors at UAB are still trying to make a full and final diagnosis. "They know it's a form of genetic ataxia, but they haven't pinpointed the type I have," he said.
Parnell takes some comfort in the fact that the ataxia will likely not kill him or impair his cognitive abilities, but he and his wife, Erin, can't be sure exactly how far the symptoms might progress. "I might end up in a wheelchair one day, but I might still have use of my arms," he said. "I might end up in a wheelchair and not have use of my arms."
It is not uncommon for patients to face this sort of uncertainty regarding ataxia, according to Yacoubian. "Because of the huge number of possible causes of ataxia, it can take some time to determine the cause of ataxia for a patient, and sometimes we are not successful at finding the cause," she said.
In some patients with genetic forms of ataxia, "the cause is unclear, even after extensive diagnostic testing," Walker said.
Some non-genetic forms of ataxia are a little easier to diagnose, according to Walker. "If the ataxia is from a structural lesion... the etiology can be determined fairly readily with imaging," he said, citing such examples as tumors and strokes.
Early warning signs of ataxia include "Incoordination or imbalance in the legs, incoordination of the arms/hands (and) abnormal speech," Walker said. "The signs can be subtle at their onset."
No cure, no 'great treatments'
There are, at present, no "great treatments" and no cure for ataxia, according to Walker.
"Because of the wide range of causes (of ataxia), a specific diagnosis is often difficult to determine for patients -- limiting their options for treatment," according to the Ataxia Clinic web page.
However, "depending on the cause" of a patient's ataxia, "medications sometimes can be helpful for patients," Walker said.
Parnell said there are, for example, drugs that can make his legs feel less heavy. However, the medicines have unpleasant side effects, such as grogginess. "I would rather suck it up and just deal with it than have to ruin my liver more than I already have," he said.
Some days are better than others for Parnell, who already has a hard time walking. "On bad days it affects my voice (and) I talk with a slur," he said. "It hasn't affected my arms so much. I have had points where they are weak. I have points where I have what I call the shakes, the jitters."
Ataxia comes with a significant emotional and psychological toll for the sufferers and their loved ones. In Parnell's case, that means Erin and their two-year-old daughter, Nora.
Parnell's diagnosis -- and what he and Erin subsequently read on the Internet about the devastating effects of various forms of ataxia -- hit him hard. "Man, I won't sit here and lie," he said. "I cried."
Because ataxia lacks a cure or effective treatments, patients "often progress and have severe disabilities that limit their mobility, their ability to work, their ability to care for family," Yacoubian said.
"Understandably, patients with ataxia are under significant stress and often suffer from depression and anxiety," she said. "Some of the ataxias can also cause cognitive impairment that adds to the disability."
Family members and caregivers "are also under a lot of strain and can suffer from burnout," Yacoubian said.
Erin calls John "the very best husband and father" and said that she is up for the challenge. "I will take care of him," she said. "It is a wedding vow I will never take lightly."
'Not an uncommon symptom'
An estimated 150,000 Americans are affected by genetic or sporadic ataxia, according to the National Ataxia Foundation.
While it is "very difficult" to estimate the number of people in Birmingham or Alabama who may have ataxia, according to Walker, he said that "it is not an uncommon neurological symptom, especially if one were to pool all of the different kinds of ataxia -- degenerative, genetic, brain tumors, strokes, multiple sclerosis -- together."
The Ataxia Clinic is held once a month and typically sees about eight patients per clinic, according to Yacoubian. "But the clinic slots have filled up far into the future," she said. "We will probably need to hold the clinic more frequently."
Lots of studies
Meanwhile, ataxia research is being conducted at UAB and many other places, according to Yacoubian, who recently became a member of the Clinical Research Consortium for Spinocerebellar Ataxias, a national consortium of researchers.
Marek Napierala, a faculty member in the UAB Department of Biochemistry and Molecular Genetics, is conducting research into Friedreich's ataxia and other genetic forms, according to Yacoubian.
There are other active studies in the Europe and the United States. Many studies are funded by the National Ataxia Foundation.
'I had no idea what it was'
Parnell -- who has vowed to record and release as music as he can while he can, most of it on his own label -- wants to use his efforts to raise public awareness of ataxia.
"The goal is to bring attention to this disease that I have and that millions have, because, to be quite honest, it's not a disease that most people know about it," he said. "I had no idea what it was until I was forced to look in the mirror and deal with it."
By Jesse Chambers | firstname.lastname@example.org
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on April 14, 2015 at 5:14 PM, updated April 14, 2015 at 5:23 PM
Carly's Law patients start receiving marijuana-derived CBD oil to treat seizuresAlabama's first two patients in the state-approved Carly's Law study conducted by the University of Alabama at Birmingham last week began taking an experimental marijuana-derived medication for treating severe seizures.
A pediatric patient received the first dosage of cannabidiol, also known as CBD, on April 1 and the first adult patient started the treatment last Thursday through the study, said Dr. Jerzy P. Szaflarski, a neurology professor and director of the UAB Epilepsy Center.
"Both of these patients have what we call catastrophic epilepsy, which is a very difficult-to-control epilepsy," Szaflarski said in an interview, noting the patients each have at least 100 seizures a month and both have "failed almost all treatments including brain surgeries."
Szaflarski, who is the principal investigator of the adult study, said another patient could start receiving the treatment on Thursday and at least another two could begin next week. "If all goes well, by the end of the month we will have at least 10 patients in the study," he said.
With the medication, officials hope to see "some improvement in both seizure control and quality of life" for the patients, he said.
UAB's study -- one of the largest in the nation -- will examine the effects of the CBD medication delivered in oil form orally to patients. Although the medication comes from marijuana, it does not create the intoxicating properties associated with the drug.
Authorized by the Alabama Legislature last year, the study known as Carly's Law gets its name from the 4-year-old daughter of the Birmingham area's Dustin and Amy Chandler. The Chandlers have been pushing to allow the study that could potentially benefit children and adults suffering from seizures, including their daughter who has a rare genetic disorder called CDKL5.
"To me, it's a relief to know that we've finally begun and all the hard work is literally paying off for these patients," Dustin Chandler said in an interview today, noting his daughter is not one of the patients already accepted into the study.
"It's a relief knowing finally these people who have been suffering and bound to such a life -- they can't live the life they want because of epilepsy and debilitating seizures -- can finally get some relief. We all understand from day one it's not going to work for everybody ... but just to know it's now being dispensed and prescribed, it's just a relief," Chandler said.
The medication's delivery is happening after UAB received approval from the U.S. Food and Drug Administration on March 2 that allowed the institution to officially begin the study, which will include 50 children and 50 adults.
Szaflarski said medical officials associated with the Carly's Law studies have been contacting patients as their completed application packets arrive and undergo review. "We had initially at least around 400 phone calls from people who are interested" with more than 350 packets mailed to prospective patients, he said.
UAB officials have received around 90 packets that are being reviewed. "We already have enough patients to keep us busy for a while," he said, noting that among those received, "approximately 60 to 70 percent are pediatric and about 30 to 40 percent are adults."
Patients take the CBD oil twice a day while UAB officials monitor them for signs of progress. Patients come in for visits every two weeks, at which time doctors can prescribe an increased dosage.
Szaflarski said the study will monitor patients using CBD for side effects as well as interactions with other medications. "We will give patients one more opportunity, one more option to have their seizures under better control and in the end hopefully a better quality of life," he said.
GW Pharmaceuticals is providing the medication free of cost for the 100 patients in the study. UAB could approach the company to request more medication if the demand is greater.
"We don't anticipate any issues for the next few months," Szaflarski said about reaching the study's cap. "We do have an open option at the end of enrollment that we can go back to the company and ask them if they are willing to supply more. ... If it is clear we will exceed the number for 100, we will definitely go
By Martin J. Reed | email@example.com | Follow on Twitter on April 08, 2015 at 4:42 PM, updated April 08, 2015 at 4:50 PM
Searching for a Cure
Photo courtesy of Mary T Miller.
Parkinson’s disease impacts an estimated one million people in the United States, according to the National Parkinson Foundation.
Local residents are working hard to raise awareness and research the disease. The Parkinson Association of Alabama (PAA) recently named Vestavia Hills resident Mary T. Miller as its executive director. The organization works closely with UAB, where local resident David Standaert is the chair of the neurology department.
Parkinson’s disease is defined as a progressive neurological disorder associated with a loss of dopamine-generating cells in the brain. Dopamine is a chemical that sends messages to the part of the brain that controls movement and coordination. As Parkinson’s progresses, the amount of dopamine produced in the brain decreases, leaving a person unable to control movement normally.
There are also many more non-motor symptoms. The four key motor symptoms of Parkinson’s disease are tremor of the hands, arms, legs or jaw; muscle rigidity or stiffness of the limbs and trunk; slowness of movement; and postural instability.
Other common symptoms include dementia or confusion, fatigue, sleep disturbances, depression and anxiety. All of these symptoms can vary from person to person.
Founded in 1978, PAA is a local nonprofit organization committed to providing support, encouraging action, increasing awareness, and supporting research to lead to new and improved treatments for Parkinson’s disease.
PAA is the only organization that represents all Parkinson’s patients in the state, and the board of directors remains current on the latest legislative and research information.
Miller worked for 10 years for Cumberland School of Law at Samford University, where she was the director of alumni.
She is excited to combine her passion, skills and experience to help the foundation through various research and fundraising activities.
“My main goal is to increase awareness of who we are and what we are doing,” said Miller. “We work a lot with the UAB neurology department. They are leaders in research of Parkinson’s disease.”
Standaert explains the biggest misconceptions surrounding the disease.
“The most common myth is that there is no treatment,” said Standaert. “This simply isn’t true. We have a number of excellent treatments that can greatly improve the symptoms and restore a good quality of life for many years. Most of these medications are based on replacing the missing dopamine through one means or another. There are also important effects of non-medication treatments, especially exercise. What we don’t have is a cure for Parkinson’s — which is the focus of much of our laboratory work.”
Standaert explains that UAB had a very important role in two new treatments for the disease, which were approved at the beginning of the year: a pill called Rytary and an infusion pump system called Duopa.
“Both of these are better ways of delivering dopamine therapies, and important parts of the studies were done at UAB,” he said. “More upstream, we are working hard on new approaches to slow the disease progression. One of the exciting new ideas is that the immune system may have an important role, and just this month we have received a major new grant award from the NIH to explore how this could lead to better treatment.”
Standaert shares his advice for those who have a loved one battling the disease.
“It is important to remember that Parkinson’s disease affects the whole family, and both the patient and caregivers need support,” he said. “We do recommend that patients visit a movement disorder specialist at least twice a year to ensure that the diagnosis is accurate and the treatment is the best possible. Families should take advantage of the many support groups in the state.”
On April 23, PAA will host their signature event, Taste for a Cure, at Old Car Heaven. Proceeds will help fund research as doctors search for a cure for the disease.
For more or to purchase tickets, visit parkinsonalabama.com.
If you would like to help sponsor the event or have questions please contact Miller at.
By Katie Turpen