Your Donations Sought to Support Essential Tremor Projects

For the past two years. HopeNET has not actively solicited donations. We have been able to do so because we are an all volunteer non-profit.

However circumstances have changed due primarily to two projects:

* A formal study of Essential Tremor and balance and gait. There has been very little research on this issue even though it is a critical issue facing many who have ET. The study is tentatively scheduled to begin this fall. It will be conducted by Janice Sallitt, PT, DPT, NCS. She specializes in Orthopedic & Neuro PT. The study will center on HopeNET’s Columbia, Maryland ET support group.

* In an attempt to increase awareness of Essential Tremor, Mary Cae Asay is going to produce a play about Katherine Hepburn. Because of Mary Cae’s ET, she can make her voice sound identical to Hepburn’s.

More details will follow. These are very exciting times for HopeNET. Please continue to follow our Facebook and Blog as HopeNET continues to take active steps aimed at improving the lives of those with Essential Tremor.

Your donation will be greatly appreciated.

Peter

On Being a School Teacher with Tremor

“Mrs. Slaughter, why does your head shake?”  You have to just love the power of observation that children have, especially middle schoolers. With this seven word question my journey with essential tremor became a topic that I really wanted to just keep private. This was 12 plus years ago.  The first neurologist I went to actually knew something about ET. Reassured by the doctor that it wasn’t Parkinson’s disease and with my Primidone prescription in hand my journey began. With that blunt question from a student I knew I could no longer keep my “problem” a secret.  So this was the beginning of the wonderful first days of school explaining in each class why they would see my head shake. Not something I wanted to deal with but again children are very curious and won’t stop the questions unless they get a satisfactory answer. So for the next few years medication controlled the tremors to some degree but they were always present and needed at times to be explained, even to the parents.   Parents quite understandably want the best for their child but in many ways, deep down; I felt this was an invasion of my personal life but what can you do when it is so visible.  A couple of years ago when the Primidone no longer was helping and the stress level from teaching was causing the tremors to magnify, I retired.   I now have a new neurologist, a more accurate diagnosis of dystonia, no longer take Primidone and am seeking a different method to control the tremors.  I would love to end this with I was cured but if you have ET you know that is not the end of this story.  So I will continue to become better educated about this inconvenience and laugh at myself sometimes so I can remind myself that I am strong enough to keep doing all the things I want to do for as long as I can.

— Mary Jane Slaughter

Tai Chi for Essential Tremor Class Started

Dr. Sean Vasaitis is a professor at the University of Maryland Eastern Shore. He is a young man who has had Essential Tremor since he was a child. He found that Tai Chi was an effective treatment for his ET. He consequently undertook an extensive program to learn Tai Chi. This involved a number of trips including this past winter to Northwest China to learn from the real experts of Tai Chi.

He is conducting a formal study of Tai Chi as a treatment of ET. He is using HopeNET’s Silver Spring ET support group as a test group. Yesterday, April 28, was the first class. It was conducted at Leisure World Maryland. Renee, a faithful member of the group, sent me this message below.

If you are interested in participating, please let me know.

— Peter

 

ReneesNote

Join us at this Thursday’s ET support group in Silver Spring, Maryland

Please note this meeting starts at 3pm, not the regular 10:30am time. Dr. Dietrich Haubenberger of NIH will speak about the current status of ET research.  He has spoken previously to our group. To say he is an expert on the subject is an understatement.  You won’t want to miss this meeting!

 

Maryland Essential Tremor Support Group Welcomed Dr. Paul Fishman to Meeting

 The Columbia, Maryland ET support group was pleased to welcome Dr. Paul Fishman on 2/3/17 as a guest speaker for the monthly meeting at The Wellness Center. Dr. Fishman performs both Deep Brain Stimulation (DBS) surgery and the newer MR-guided Focused Ultrasound Surgery (FUS) on ET patients.

We were fortunate to have him visit and share his informative presentation with us.

Click here for presentation notes.

Present-Day Essential Tremor Medical Research Outlined:

Experts Reach Consensus on Research Priorities

In the quest to advance Essential Tremor (ET) research that could lead to better understanding and development of successful treatments, medical professionals in the movement disorder field collaborated on a white paper published in December, 2016 entitled “Knowledge Gaps and Research Recommendations for Essential Tremor.”

ET_poster (1)The paper developed out of a workshop these professionals attended in May 2015 and their subsequent brainstorming discussions. The non-profit ET patient advocacy organization HopeNET, which has for several years sought to connect the ET patient community to the medical research community, proudly played a role in the occurrence of the workshop, which was hosted by the National Institutes of Neurological Disease and Stroke (NINDS) in Bethesda, Maryland, USA, and included over 60 participants.

The resulting paper is a valuable guideline for the future. It is certain to be of interest to the ET community who will be glad to learn that medical professionals are indeed working to further knowledge of this movement disorder! The summary below serves as a layperson’s general overview of the detailed paper to convey information in terms that are more understandable to a general audience. Science-curious readers can pursue the paper in full through ScienceDirect here [1].

The causes of ET are poorly understood. Despite widespread occurrence, no medications have been created specifically to treat it. The goals of making ET less elusive and coordinating research efforts were driving forces behind the workshop discussions. One big challenge is limited knowledge about both the genetics and the neural pathway mechanisms involved in ET. Another has to do with inconsistencies in making an ET diagnosis. The fact that ET has multiple causes makes any simple definition of it inadequate.

Clinical research methods and approaches have been inconsistent. And without standardized procedures in place, analyses and findings disagree. The authors do an excellent job of taking an in-depth look at what they do and do not know about ET. Perhaps most importantly they take it a step further: they come to a consensus on recommendations for research in these areas: phenomenology and phenotypes, therapies/ clinical trials, physiology, pathology and genetics.

The authors recall the classic ET definition given roughly 20 years ago, as set forth by the International Parkinson and Movement Disorder Society (MDS). They mention that since that time there has been speculation about other characteristics that may need to be added to the definition such as, modest changes or abnormalities in these areas: cerebellar [2], cognitive [3] and hearing function [4, 5], plus dystonia [6].

The authors discuss how it is common for ET patients to present with new symptoms that do not fit in to the existing ET definition, changes that call into question the validity of the diagnosis. ET also appears to share overlapping features with other conditions [7]. New symptoms and overlapping features have encumbered clinicians, but they still believe a revised, workable definition is necessary clinically for the purpose of making inroads and facilitating important collaborative research.

They agree on new criteria and propose that ET going forward be considered as an isolated tremor “syndrome” rather than a single disease or condition since it has been established that ET has multiple causes.

The following are the authors’ recommended diagnostic criteria for defining ET as an “isolated tremor syndrome” in an individual:

  • Bi-brachial action tremor (postural or kinetic)
  • Duration of 3 years or more
  • With or without head tremor or tremor in other locations
  • No other diagnostic neurologic signs (e.g. overt dystonia or parkinsonism)
  • No identifiable endogenous (e.g., autoimmune disease) or exogenous (e.g., toxins) disturbances that could cause tremor
  • Difficulty with tandem walking is permissible, but no abnormality of gait [8]

Bi-brachial pertains to the 2 arms. Postural refers to holding a limb against gravity as in for example, holding arms out in front of the body, and kinetic refers to tremor that occurs when in action. The authors acknowledge that there are isolated tremors that do not meet the proposed ET criteria. They make clear this clinical ET definition is not meant as a detriment to continued research on other isolated tremors.

Given the absence of an identified ET gene or an identified biomarker to help with a diagnosis, emphasis is placed by the authors on gathering and classifying symptoms as fully as possible, with quality data collection and standardization efforts in place, including use of common data elements (CDEs). How is tremor measured in a clinical setting? Various tremor rating scales are used and the authors are calling for their evaluation. The rating scales include clinical assessment scales, patient-reported ratings/scales, and motion transducers, which are those devices that measure tremor amplitude or severity. Recommendations are made for development of a tremor monitor, among other technological devices. It is however pointed out that gaining insight from measuring the tremor is not as conclusive as it would seem since tremor amplitude or the severity of the oscillation can fluctuate at various times and the significance of those fluctuations is not known.

Regarding therapies or treatments for ET, the common drugs presently used were created to treat other conditions like epilepsy, high blood pressure and anxiety and were repurposed for ET when found to reduce tremor in some people. The paper explains briefly how these agents are thought to work at the cellular level. Besides the commonly used beta-blockers, anti-epilepsy drugs and benzodiazepines, clinical research has established ethanol, aka alcohol, as effective in its ability to reduce tremor amplitude for many people. Its effectiveness has led to studies in past years that isolate ethanol-related molecules such as sodium oxybate, 1-Octanol and octanoic acid, and these may turn into possible future treatments. They also seek to better understand how certain surgical interventions have met some success in reducing tremor: deep brain stimulation (DBS) and magnetic resonance focused ultrasound, both of which target and lesion the ventral intermediate nucleus (VIM) portion of the thalamus in the brain.

At the physiological level, researchers have identified a particular central nervous system circuit they think may be responsible for tremor oscillation in ET called the corticobulbocerebellothalamocortical circuit, and they are calling for investigation of it.

Genetics research findings make clear to the authors that the path to increased ET knowledge may be found in focusing on large patient cohort studies worldwide in order to make certain associations. Background is given on some important studies that have been done such as the Icelandic genome-wide association study (GWAS) that suggests the gene LINGO1 has possible associations to ET [9]. Common data elements, collection and storage of DNA bio-samples and coordinated multinational efforts are strongly encouraged.

The paper builds an awareness of scientific research being done in the ET field. The workshop provided an opportunity for experts to discuss present-day ET challenges. The authors discovered shared goals that ultimately revolve around deepening knowledge and making new treatments available, improving data, standardizing approaches, and evaluating therapies. It is a guideline for future research projects that, if adopted by researchers, could see momentum build in the direction of better outcomes for ET.

Lisa Gannon

 

 

 

References:

[1] F. Hopfner, D. Haubenberger, W.R. Galpern, K. Gwinn, A. Van’t Veer, S. White, …, G. Deuschl. Knowledge gaps and research recommendations for essential tremor. Parkinsonism and Related Disorders 33 (2016) 27-35. Retrieved from http://www.sciencedirect.com/science/article/pii/S1353802016303893

[2] J. Benito-Leon, A. Labiano-Fontcuberta, Linking essential tremor to the cerebellum: clinical evidence, Cerebellum 15(3)(2016) 253-262.

[3] E.D. Louis, J. Benito-Leon, S. Vega-Quiroga, F. Bermejo-Pareja, Neurological Disorders in Central Spain Study, Faster rate of cognitive decline in essential tremor cases than controls: a prospective study, Eur. J. Neurol. 17(10)(2010) 1291-1297]

[4, 5] W. G. Ondo, L. Sutton, K. Dat Vuong, D. Lai, J. Jankovic, Hearing impairment in essential tremor, Neurology 61 (8)(2003) 1093-1097.

Benito-Leon, E.D. Louis, F. Bermejo-Parmejo-Pareja, Neurological Disorders in Central Spain Study, Reported hearing impairment in essential tremor: a population based case-control study, Neuroepidemiology 29(3—4)(2007) 213-217.

[6] J. Jankovic. Essential tremor: a heterogenous disorder, Mov. Disord. 17(4)(2002) 638-644.

[7] R.J. Elble, What is essential tremor? Curr. Neurol. Neurosci. Rep. 13(6)(2013) 353.

[8] F. Hopfner, et al. Knowledge gaps and research recommendations for essential tremor. Parkinsonism and Related Disorders 33 (2016) 27-35, http://dx.doi.org/10.1016/j.parkreldis.2016.10.002

[9] H. Stefansson, S. Steinberg, H. Petursson, O. Gustafsson, I.H. Gudjonsdottir, G.A. Jonsdottir, …, K. Stefansson. Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat. Genet. 41 (3)(2009) 277–279.

Big McGill University Study Underway – Now Recruiting Those With Essential Tremor

One of our Falls Church, Virginia ET support group members has signed up for and made us aware of this very large genetics study in Montreal, Quebec, Canada. It comes on the heels of an exciting large genome-wide association study (GWAS) conducted by researchers at Montreal Neurological Institute and Hospital and Kiel University in Germany and written about in Brain, as detailed in the article. Click article link for more details …

https://www.mcgill.ca/channels/news/essential-tremor-sufferers-needed-groundbreaking-study-263594

ET Insights from Dr. Claudia Testa

On December 6th, I met with Dr. Claudia Testa of the Virginia Commonwealth University’s Parkinson’s & Movement Disorder Center. She is one of the foremost experts on genetics concerning Essential Tremor (ET). She told me that there is a good possibility that ET is not caused by a single change in a single gene. This means there is not one mutated “ET gene” that can just be corrected. Instead, there are probably many different genetic changes that add up to ET. This highlights the challenges faced by those doing the research regarding ET. The longer I am the Executive Director of HopeNET, the more I appreciate the challenges faced by these researchers. As I have said many times, the brain is the most complex object known to man.

However there is good news that should help the research process. First of all, many researchers are taking the approach of not labeling patients but rather grouping them according to the symptoms they share. In other words, not simply grouping those with ET or Dystonia but rather, those with severe hand tremor, voice tremor and problems with balance – for example.

Another positive development is the desire to have Common Data Elements (CDE) for ET. Quite simply, this would help ensure that researchers compare apples to apples & oranges to oranges.

The picture in creating better treatments and ultimately a cure is daunting. But the picture has never looked better than it does now. There is hope.

– Peter

Speech to Text Technology Writes for You

microphone-clipart-9tpekegncIn the early 1990s, a number of companies started to offer software that was designed to convert spoken words into text that could then be displayed or printed. Among the early commercial offerings was a program entitled “Dragon Naturally Speaking”. In 1994, I tried an early version of Dragon in my workplace. After installing a microphone to my computer, I spoke several sentences rather slowly, and watched words appear on the computer monitor. Unfortunately, there were quite a few errors in the written text, and I chose to stick with keyboard entry.

Now, more than two decades later, Dragon NaturallySpeaking has been improved such that for many users with hand tremors (from E.T., Parkinson’s Disease, Dystonia, and other causes) it performs well enough that it can serve as a person’s primary method for entering text into a computer.

Most modern cell phones offer users the option to speak into their phone to generate an email, a text message (or iMessage), a memo, or a variety of other “text” inputs. Those with iPhones (the iPhone 4s or newer) or iPads can ask “Siri” a wide variety of questions by voice. Many newer automobiles are capable of responding to driver voice commands (tune radio to FM 107.9; turn on air conditioning, call home, etc.). The number of “things” that can respond to human voice commands continues to grow. All of these capabilities rely on speech recognition technology.

— Fred Berko