Ataxia Digest

The Johns Hopkins Ataxia Center: How to Become a Patient in Our Clinic

Ataxia Center

Welcome to our Ataxia Center at Johns Hopkins! The first step in the process of becoming one of our patients is to have neurology records sent to us. Please include demographic information (so we know who to contact when we get the records), neurology clinic notes within the past year, reports of your most recent MRI, lab results, and any genetic testing results. These notes can be faxed to 410-630-7900; Attn: Ataxia Center for review by one of our physicians. The decisions to accept a patient into our clinic is based on our neurologist’s assessment of whether the patient would benefit from being seen by physicians and therapists with an expertise in neurodegenerative cerebellar ataxia. Based on review of the clinical records, patients may also be scheduled with a physical therapist, occupational therapist, speech therapist, genetic counselor and for vestibular testing, neurocognitive testing, and/ or neuro-ophthalmology. Our center believes in a multidisciplinary approach to recognizing and treating cerebellar ataxia. All of these appointments are geared towards diagnosing and providing treatment recommendations. Each appointment provides a thorough work up and concentrated care to our patients.

When coming to your appointment day, please make sure to have a copy of the most recent MRI on a CD, and questions to ask your physician. Before you leave the appointment please make sure you have all referrals, orders, prescriptions or refills placed for you. Immediately after the visit please make sure you call to get a follow-up appointment right away, since we tend to book up quickly. We always look forward to assisting in your care!

~ Carrie Berlett, Ataxia Clinic Coordinator

Please consider supporting our center!The work of the Johns Hopkins University Ataxia Center would not be possible without the generous support of the Gordon and Marilyn Macklin Foundation, the National Ataxia Foundation, our patients and the community.

For more information about supporting the center, please contact the Development Office at 443-287-7877.

Mailing Address Johns Hopkins at Green Spring Station10751 Falls Road, Suite 250, Lutherville, MD 21093

Clinic Address Johns Hopkins Outpatient Center601 North Caroline Street, Suite 5064, Baltimore, MD 21287

Ataxia Coordinator Carrie Berlett, BSPhone: 410-955-4894Fax: 410-616-2810cmokar1@jhmi.edu

Ataxia Digest Editor Donna DeLeno Neuworth, BA, Ataxia Health EducatorPhone: 410-616-2811ddeleno1@jhmi.edu

Ataxia DigestNews from the Johns Hopkins Ataxia Center 2018

The Ataxia Center at Johns Hopkins has continued to pursue its tripartite mission of clinical care, education and research. The ataxia medical home is central to that mission and continues to thrive and become more embedded in our practice. In addition to this multidisciplinary approach to the identification and treatment of cerebellar ataxia, the Ataxia Center also serves as a clearinghouse for information, and a way to get involved in scientific studies in our quest to better understand and treat ataxia. As part of our clinical mission, the Center has welcomed Jee Bang, M.D., M.P.H. and Ricardo Roda, M.D., Ph.D., two neurologists and movement disorders specialists.

Our education efforts have also expanded and we added a full time ataxia health educator to our staff, Ms. Donna DeLeno Neuworth. With the addition of Ms. DeLeno Neuworth, the Ataxia Center’s outreach program has grown and we have been able to offer more educational and social programs. We continued to offer our annual events such as the Ataxia Sailing Day, the Ataxia Holiday Party, and an Ataxia Wellness Day, and we were also able to offer educational programs and support groups on emergency medical care, physical therapy and ataxia, and clinical trial readiness and research. We are looking forward to all the events and programs in the upcoming year and hope you will be able to join us for many of them (please see the listing of events on page 5 and 6). We also continue to educate other health profesisonals and we welcomed two new Fellows who began their work in the Ataxia Center in 2017 —Bonnie Kaas, M.D. and Suraj Rajan, M.D., MSc. (please see page 9 for more information on the new staff members).

Our research also continues to grow as we forge collaborations with others at Johns Hopkins and nationwide. During this past year, the Ataxia Center took part in a clinical trial for people with spinocerebellar ataxias to test a potential therapy for the treatment of neurodegenerative, neuropsychiatric and other challenges associated with ataxia. The trial is still ongoing and the Ataxia Center continues to pursue additional research studies to expand our understanding of ataxia-related symptoms and to identify better treatments.

In 2018 the Ataxia Center will be celebrating its 10th year anniversary. We are deeply grateful to the Gordon and Marilyn Macklin Foundation, the National Ataxia Foundation, and other donors who have continually supported our efforts at the Johns Hopkins Ataxia Center to improve the health and well-being of individuals with ataxia and their families.

Sincerely,

For more information about the Ataxia Center please visit our website:https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/movement_disorders/ataxia/conditions/

Letter from the Director2015 Vol. 2

Letter from the DirectorThe Ataxia Center at Johns Hopkins has continued to pursue its tripartite mission of clinical care, education of patients, family and healthcare professionals and research to improve treatments. As part of that mission, the Center has welcomed new facul-ty and staff, expanded outreach efforts, participated in a nationwide clinical trial and continued to train fellows in the treatment of individuals with ataxia.

Jee Bang, M.D., M.P.H., Ricardo Roda, M.D., Ph.D., two neurologists and move-ment disorders specialists, and Donna DeLeno Neuworth, Ataxia Health Educator, have joined the Ataxia Center staff (please see next page for more information on the new staff members). The Ataxia Center also welcomed two new fellows who be-gan their work in the Ataxia Center in 2017 —Bonnie Kaas, M.D. and Suraj Rajan, MSc., M.D.

With the addition of Ms. DeLeno Neuworth as a full-time Ataxia Health Educator, the Ataxia Center’s outreachprogram has grown and we have been able to offer more educational and social programs. In addition to the annual events such as the Ataxia Sailing Day, the Ataxia Holiday Party, and an Ataxia Wellness Day, we were able to offer educational programs and support groups on emergency medical care, physical therapy and ataxia and clinical trial readiness and research. We are looking forward to all the events and programs in the upcoming year and hope you will be able to join us for many of them (please see the listing of events).

The ataxia medical home continues to thrive and become more embedded in our practice. In addition to the multidisciplinary approach to the identification and treatment of cerebellar ataxia, the Ataxia Center also serve as a clearinghouse for information, and a way to get involved in scientific studies in our quest to better understand and treat ataxia. During this past year the Ataxia Center took part in a clinical trial for people involving people with spinocerebellar ataxias to test a potential therapy for the treatment of neurodegenerative, neuropsychiatric and other challenges associated with ataxia. The trial is still ongoing and the Ataxia Center continues to pursue additional research studies to expand our understanding of ataxia-related symptoms and to identify better treat-ments.

In 2018 the Ataxia Center will be celebrating their 10th year anniversary. We are deeply grateful to the Gordon and Marilyn Macklin Foundation and other donors who have continually supported the work of the Johns Hop-kins Ataxia Center and all of the outreach activities and programs.

Sincerely,

For more information about the Ataxia Center please visit our website at https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/movement_disorders/ataxia/conditions/

Ataxia Digest News from the Johns Hopkins Ataxia Center 2018

Liana Rosenthal, MD Liana S. Rosenthal, MD

Ataxia Digest

Can Genetic Testing End My Diagnostic Odyssey?

Weiyi Mu, ScM, CGC, Johns Hopkins University, Institute of Genetic Medicine

The road to a diagnosis is often long and weary. For many, there has been quite a journey before the word “ataxia” is even mentioned. This odyssey may involve countless medical visits and frustrating misdiagnoses.

After reaching this point, however, you may realize that ataxia is a diagnosis with many different causes. Some people with ataxia have an autoimmune disease or vitamin deficiencies; some have family members with a specific type of spinocerebellar ataxia. Yet others are “idiopathic” mysteries even after years of testing.

If you are in the “undiagnosed” category of ataxia, you may be presented with genetic testing as an option. Genetic testing has come a long way since 1993, the year the gene for spinocerebellar ataxia type 1 was first located. Today, there are hundreds of genes linked to ataxia.

Rumors abound with genetic testing. The information is complicated, and changes year to year. It can be difficult to stay afloat of all the updates. Below are four common misconceptions about genetic testing.

Can Genetic Testing End My Diagnostic Odyssey?

Ataxia Digest

The road to a diagnosis is often long and weary. For many, there has been quite a journey before the word “ataxia” is even mentioned. This odyssey may involve countless medical visits and frustrating misdiagnoses.

After reaching this point, however, you may realize that ataxia is a diagnosis with many different causes. Some people with ataxia have an autoimmune disease or vitamin deficiencies; some have family members with a specific type of spinocerebellar ataxia. Yet others are “idiopathic” mysteries even af-ter years of testing.

If you are in the “undiagnosed” category of ataxia, you may be presented with genetic testing as an option. Genetic testing has come a long way since 1993, the year the gene for spinocerebellar ataxia type 1 was first located. To-day, there are hundreds of genes linked to ataxia.

Rumors abound with genetic testing. The information is complicated, and changes year to year. It can be difficult to stay afloat of all the updates. Here are some four common misconceptions about genetic testing.

MYTH 1: Genetic testing does not change anything about my case of ataxia. FACT: This depends on each person. It is true that there is not a way to “fix” a non-functional ataxia gene. Your day to day treatment may not change. However, a genetic diagnosis can provide a more specific progno-sis, accurate risk prediction for your children and grandchildren, and in some cases, more effective therapies that work for your type of ataxia.   

MYTH 2: If the genetic test is “normal,” then my case ataxia is not genetic. FACT: This is not necessarily true. There are many different types of genetic tests. Some test just one ataxia gene; some test dozens of genes. Some tests, such as whole exome sequencing, look at almost all known genes at once, but cannot detect certain types of gene changes. Ask your healthcare providers to find out what the best testing strategy is for you.

MYTH 3: Genetic testing always provides definitive, “yes” or “no” answers. FACT: Sometimes, genetic testing can lead to more questions than answers. Results may be uncertain. Other times, tests such as whole exome sequencing may reveal information about other health risks, such as heredi-tary cancers. You can speak with a genetic counselor to learn about what the testing may reveal, before decid-ing to have your blood drawn. It is important to keep in mind that despite the latest advancements, we still do not know every gene for ataxia. The majority of people with likely genetic ataxia remain undiagnosed. It may help to know that you are not alone, and that researchers are working hard to uncover more causes and treat-ments. If you are undiagnosed, check back with your ataxia neurologist and genetic counselor. There are still more questions to be answered, and it is our privilege to be part of your journey.  MYTH 4: Genetic testing is too expensive. Insurance will not cover it. FACT: The era of the $20,000 genetic test is over. Most genetic tests are in the $100s to low $1000s range. More insurances are covering genetic testing than before. If your insurance didn’t cover genetic testing a few years ago, it may be worth it to check again. Some genetic testing companies also offer discount payment plans.

Weiyi Mu, ScM, CGC, Johns Hopkins University, Institute of Genetic Medicine

Source: globalgenes.org

MYTH 1: Genetic testing does not change anything about my case of ataxia.

FACT: This depends on each person. It is true that there is not a way to “fix” a non-functional ataxia gene. Your day to day treatment may not change. However, a genetic diagnosis can provide a more specific prognosis, accurate risk prediction for your children and grandchildren, and in some cases, more effective therapies that work for your type of ataxia.

MYTH 2: If the genetic test is “normal,” then my case of ataxia is not genetic.

FACT: This is not necessarily true. There are many different types of genetic tests. Some test just one ataxia gene; some test dozens of genes. Some tests, such as whole exome sequencing, look at almost all known genes at once, but cannot detect certain types of gene changes. Ask your healthcare providers to find out what the best testing strategy is for you.

MYTH 3: Genetic testing always provides definitive, “yes” or “no” answers.

FACT: Sometimes, genetic testing can lead to more questions than answers. Results may be

uncertain. Other times, tests such as whole exome sequencing may reveal information about other health risks, such as hereditary cancers. You can speak with a genetic counselor to learn about what the testing may reveal, before deciding to have your blood drawn. It is important to keep in mind that despite the latest advancements, we still do not know every gene for ataxia. The majority of people with likely genetic ataxia remain undiagnosed. It may help to know that you are not alone, and that researchers are working hard to uncover more causes and treatments. If you are undiagnosed, check back with your ataxia neurologist and genetic counselor. There are still more questions to be answered, and it is our privilege to be part of your journey.

MYTH 4: Genetic testing is too expensive. Insurance will not cover it.

FACT: The era of the $20,000 genetic test is over. Most genetic tests are in the $100s to low $1000s range. More insurances are covering genetic testing than before. If your insurance did not cover genetic testing a few years ago, it may be worth it to check again. Some genetic testing companies also offer discount payment plans.

Source: globalgenes.org

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Ataxia Digest

Cognition, the Cerebellum and Cerebellar Ataxia

Cherie Marvel, PhD, Associate Professor, Neurology and Psychiatry

For the past several years, we have been working to identify cognitive and emotional changes associated with cerebellar ataxia. There are no standardized or widely used diagnostic tests currently available to measure cerebellar-related non-motor function. Therefore, we have taken a two-prong approach to our research: 1) design and administer a battery of tests aimed to assess cerebellar cognitive abilities, and 2) conduct interviews with the patients and families to gather data about symptom severity and progression.

In terms of cognition, we are finding that cerebellar ataxia impacts three areas: 1) patient’s ability to create an efficient, step by step approach to managing a new situation. This may interfere with daily tasks of planning and problem solving; 2) word finding difficulties also increase with the onset of ataxia, and this is distinct from cerebellar-related speech changes. Patients may instead use a less precise word than intended and experience difficulty getting their point across and 3) short-term memory may also be affected, with patients experiencing more problems remembering appointments, needing lists and reminders, forgetting what has been said in conversations and misplacing objects.

In terms of emotions, our data indicate an ataxia-related increase in depressive and anxious mood symptoms. A decrease in emotional regulation can lead to feelings of frustration and irritability that are expressed as angry outbursts, followed by a rapid return to usual behavior. Importantly, these emotional changes can

negatively impact interpersonal relationships, marital relations, and coping strategies. Because of this, we consider this avenue of research a priority for future studies in cerebellar ataxia.

As we learn more about changes in cognition and emotion associated with the progression of cerebellar ataxia, we will be in a better position to improve education for patients and families, as well as to continue on our path towards developing new treatments.

For more information about a research study at Johns Hopkins involving cognition and emotion, please refer to the research section of this newsletter on page 8.

CerebellumMedulla(Brain Stem)

Cerebrum

Dr. Cherie Marvel received her Ph.D. in Neuroscience from Georgetown University in Washington, DC in 2002. Her dissertation research examined cerebellar-related cognitive and motor deficits in schizophrenia. She completed her first postdoctoral fellowship in Clinical Neuroscience at the University of Iowa, where she furthered her training in cerebellar cognitive function in psychiatric disorders. She completed her second post-doctoral fellowship in Cognitive Neuroscience at Johns Hopkins University, where she learned to use brain imaging methods (such as functional MRI) to examine cognition.

Now an Associate Professor of Neurology and Psychiatry & Behavioral Sciences at Johns Hopkins, Dr. Marvel’s research focuses on the interaction between cognitive and motor systems, with special emphasis on the cerebellum, in healthy and clinical populations.

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Source: Creative Commons Attribution 2.5 License 2006

Ataxia Digest

Multiple System Atrophy (MSA)

Jee Bang, MD, MPH, Clinical Director, Johns Hopkins Huntington Disease Center of Excellence

MSA is a degenerative neurological disease which can look similar to either Parkinson disease or cerebellar ataxia, depending on the type. One type is called MSA-C, where the C refers to cerebellar symptoms, and the other type is called MSA-P, where the P refers to Parkinsonism (Parkinson disease-like symptoms). A patient with MSA may present with mixed features of both MSA-C and MSA-P.

As the name implies, MSA affects multiple different areas of the brain, including the cerebellum (which controls balance and coordination) and the autonomic nervous

system (which controls automatic regulatory functions in the body such as blood pressure, bladder function, and temperature regulation). In fact, patients with MSA often present with changes in their autonomic functions, before the motor changes occur. For example, a patient may develop loss of bladder control (and/or erectile dysfunction in men) or dizziness upon standing or sitting up with no other changes in their balance or movement. They may also develop sleep abnormalities, such as acting out what they are dreaming while asleep (called REM behavior disorder, or RBD) or difficulty breathing (sleep apnea). Months or even years later, movement changes may follow.

MSA-PPatients with MSA-P can experience similar symptoms as patients with Parkinson disease (PD). For example, they may have tremors, slowness of movement, muscle rigidity or stiffness, or imbalance. However, unlike PD, those symptoms are often rapidly progressive. Levodopa, a medication used to treat PD, can lead to some symptom improvement in MSA. However, the effectiveness of this medication is small, does not last as long as it does for PD, or simply may not be effective in MSA.

MSA-CPatients with MSA-C can experience imbalance, slurred speech, clumsiness, double vision, difficulty swallowing, or a sensation that the objects they see appear to be jumping around because their eyes are constantly bouncing. MSA-C is different from other diseases that cause ataxia by the fact that it is often preceded or accompanied by autonomic dysfunction.

DiagnosisThere is no single definitive test to diagnose MSA. Clinicians use the history, the timeline of symptoms, physical examination including blood pressure measurements in the lying down and standing up positions, brain imaging, and lab tests (including additional autonomic function tests to make the diagnosis).

TreatmentThere is currently no medication to stop or slow down the progression of MSA. However, there are multiple medications and non-medical interventions to treat the symptoms of MSA and improve the quality of life. Levodopa, as mentioned above, may help some MSA patients by improving tremors, slowness of movement, muscle rigidity or stiffness, or imbalance. Several medications are available to improve the blood pressure drop with position changes (called orthostatic hypotension). Sleep treatments are also available to treat RBD and sleep apnea. Regular physical, occupational, and speech therapies are helpful in maintaining the level of function (strength, flexibility, balance) as long as possible. Unfortunately, patients with MSA tend to have a shorter lifespan compared to patients with PD or slowly degenerative genetic ataxias. More research studies to understandthe disease process, and how to treat the disease, are underway.

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Ataxia Digest

Meet the Ataxia Ambassadors

If you have attended an ataxia event this past year, chances are you have met some of the Ataxia Ambassadors, who have been volunteering their help at the center and with events for several years.

The Ataxia Ambassadors Club is a large group of undergraduate students from Johns Hopkins University who are committed to helping individuals with ataxia and their care partners through outreach, education and fundraising activities to support both the Johns Hopkins Ataxia Center and the National Ataxia Foundation.

Many of the students are pre-medical students, neuroscience or bioengineering majors who want to improve the lives of people with ataxia by developing improved technology, tools and research. They observe the ataxia neurologists and other clinicians at the monthly Johns Hopkins Ataxia Center Clinic and are very engaged and interested in learning all they can about ataxia. It is very encouraging to see so many students devoting their time and college studies towards improving the quality of life for people living with ataxia.

In addition to helping at all the Mid-Atlantic Ataxia Social Events, the Ataxia Ambassadors host an annual event on campus – Arts for Ataxia – where performing arts student groups, including a cappella group, cultural dance, string and instrumental music, perform for people in the Johns Hopkins Mid-Atlantic Ataxia Social Group.

Ataxia Events Ataxia Sailing Day

The weather was perfect for the third annual Ataxia Sailing Day which took place on June 10, 2017. The Downtown Sailing Center (DSC) again graciously hosted the Ataxia Center and provided accessible sailing for people with ataxia and their families in the Inner Harbor. It was a day of fun, followed by a fundraising raffle for the Ataxia Center at the Little Havana restaurant with good food and comradery. The Downtown Sailing Association is a non-profit organization that provides the community with affordable and accessible quality sailing programs and events. The Downtown Sailing Association provides education in sailing for all skill levels, ages and abilities. Saturday, June 9, 2018 is the next Ataxia Sailing Day. We hope you can join in the fun!

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Ataxia Digest

The Ataxia Center hosted several programs throughout the year. In December 2016, over 55 people attended the annual holiday party in Baltimore, coming from West Virginia, Pennsylvania, District of Columbia, and Maryland. The participants received a presentation on emergency medical assistance by Dr. Liana Rosenthal,Johns Hopkins Ataxia Center Director, and Mary Blake, Director of Quality and Risk Management, from the League of Disabilities, at the Howard County Medical Center.

During Ataxia Wellness Day on April 29, 2017 care partners and people with ataxia enjoyed lunch, seated massage and chair yoga. Dr. Cherie Marvel from the Ataxia Center also delivered a presentation on cognition and ataxia. In June we sailed with the Downtown SailingCenter and in September we hosted a joint event with the Chesapeake Chapter of the National Ataxia Foundation on ataxia research.

The annual ataxia holiday party was on December 2nd at the BWI Marriott Hotel which is always a fun event with good food and conversation.

Upcoming Events, Support Groups and Educational Programs in 2018

We have many great events planned for 2018. If you would like to keep updated on upcoming events and programs, andreceive our e-newsletter and other announcements, please contact Donna DeLeno Neuworth, Health Educator, atddeleno1@jhmi.edu or 410-616-2811.

Saturday, February 24, 2018: Ataxia Genetics: From Basic Principles to Newest Updates, Towson, Maryland Weiyi Mu, ScM, CGC, Genetic Counselor at Johns Hopkins University, Institute of Genetic Medicine and the Johns Hopkins Ataxia Center will be presenting information on ataxia genetics followed by a Q & A session.

Saturday, April 14, 2018: Ask the Lawyer, Ask the Doctor, Columbia, Maryland A program that includes presentations and a large Q & A segment on various topics on cerebellar ataxia, estate planning, advance directives, living wills, trusts and disability benefits including applications and appeals. Presenters include Liana Rosenthal, MD, Director, Ataxia Center; Director, Clinical Core of the Morris K. Udall Centers of Excellence for Parkinson’s Disease Research and Assistant Professor of Neurology; Mary E. O’Byrne, Esq., O’Byrne Law, LLC, Lutherville, MD and Richard Neuworth, Esq., attorney at Lebau & Neuworth, Towson, MD.

Saturday, June 9, 2018 : Ataxia Sailing Day, Baltimore, Maryland The fourth annual Ataxia Sailing Day at the Downtown Sailing Association (DSC) http://www.downtownsailing.org/. No sailing experience necessary. The DSC provides a safe and fun experience for children and adults with ataxia. See their website for more information. After sailing, enjoy appetizers and a raffle with great prizes at a nearby restaurant. Registration will be open soon for this popular event!

Other upcoming Ataxia Center events for 2018 in the planning include: Caring for the Caregiver Retreat, Traveling with a Disability, a 10th Anniversary Celebration of the Johns Hopkins University Ataxia Center and more!

Ataxia Programs and Events

Holiday Party Fun 2016

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Ataxia Digest

Tips for People with Ataxia and Care Partners

When Should I Call My Healthcare Provider?Symptoms and time of onset may vary according to the type of ataxia. Each person may experience symptoms differently. Contact your provider if you have any symptoms such as:

Source: Johns Hopkins University Ataxia Center

• Balance and coordination problems

• Lack of coordination in hands, arms, or legs

• Slurring of speech

• Wide-based gait (manner of walking)

• Difficulty with writing and eating

• Slow eye movements

Key Points About Ataxia• People diagnosed with ataxia lose muscle control in

their arms and legs, which may lead to a lack of balance, coordination, and trouble walking.

• Ataxia may affect the fingers, hands, arms, legs, body, speech, and even eye movements.

• Certain injuries or illnesses can cause ataxia to appear suddenly, such as head injury, stroke, brain hemorrhage, infections, exposure to certain drugs, or if breathing or the heart stops.

• Some conditions can cause ataxia to appear gradually, such as hypothyroidism, alcohol abuse, certain vitamin

deficiencies, chronic exposure to certain drugs, multiple sclerosis, and other disorders.

Typically the most common symptoms of ataxia include:- Balance and coordination are affected first

- Poor coordination of hands, arms, and legs

- Slurring of speech

- Difficulty with writing and eating

- Slow eye movements

Tips to Help You Get the Most from a Visit to Your Healthcare Provider• Know the reason for your visit and what you want to

happen.

• Before your visit, write down questions you want answered.

• Bring someone with you to help you ask questions and remember what your provider tells you.

• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.

• Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.

• Ask if your condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if you do not take the medicine or have the test or procedure.

• If you have a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your provider if you have questions.

Ataxia Center

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Ataxia Digest

Johns Hopkins Ataxia Research Studies

Other Research ResourcesClinicaltrials.gov ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world.

Connecting Organizations for Regional Disease Surveillance (CORDS) http://www.cordsnetwork.orgNon-Governmental Organization comprised of six international networks, working to reduce and prevent the spread of infectious diseases by exchanging information between surveillance systems globally.

National Ataxia Foundation http://www.ataxia.org/ Dedicated to improving the lives of people affected by ataxia through support, education and research.

Friedreich’s Ataxia Research Alliance (FARA) http://www.curefa.org/index.php The Friedreich’s Ataxia Research Alliance (FARA) is a national, public, 501(c)(3), non-profit, tax-exempt organization dedicated to the pursuit of scientific research leading to treatments and a cure for Friedreich’s ataxia.

Condition Title Objective Eligibility PrincipleInvestigator Contact

SCA 6,SCA 8

Ataxic MovementsStudy at KennedyKrieger Institute

To gain a betterunderstanding of how the cerebellumworks and evaluatebehavioral therapies

*18-85years old

Amy Bastian, PhDNA_00043851

Ataxiastudies@kennedykrieger.org

Diagnosis ofcerebellarataxia

Assessment of Non-motor Functionsin Cerebellar Ataxia

To gain a betterunderstanding of the impact of cerebellarataxia on cognition and emotionalregulation

*18-75years old

Cherie Marvel, PhDNA_00076574

Dr. Cherie Marvel,cmarvel1@jhmi.edu

Diagnosis ofcerebellarataxia

Motor learningand Control in CerebellarAtaxia

To gain a betterunderstanding of the role of the cerebellumin learning and controlling skilled actions

*18-85years old

John Krakauer, MD andAdrian Haith, PhDIRB 00036195

krakauerlab@gmail.com

SCA1,2,3,6,7,8,10

Natural HistoryStudy of GeneticModifiers in SpinocerebellarAtaxia

To gain a betterunderstanding ofprogression rates ofSCA and discover genetic modifiers that influence the age ofonset and the clinicalcharacteristics

*Presence ofsymptoms andsigns of ataxia

*Positive genetic testing either inparticipant orfamily

Chiadi Oniyike, MD andLiana Rosenthal, MDNA_00034854

Ann Fishman, Research Coordinatorataxiaresearch@jhu.edu or 410-502-5816

SCA 2,3

Magnetic ResonanceSpectroscopyin Ataxia

To gain a betterunderstanding andevaluate the differences between people with ataxia and healthy controls with no known ataxia

*those withearly orpre-symptomaticataxia symptoms(for 3 Tesla MRI)

Gulin Oz, MD, Universityof Minnesota, IRB0502m67488; Peter Barker, D. Phil and ChiadiOniyike, MD, JohnsHopkins University,NA_00034854

Diane Hutter, RN, 612-625-2340 or

Ann Fishman,410-502-5816

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Ataxia Digest

Meet the New Johns Hopkins Ataxia Center Staff Members

Jee Bang, M.D., M.P.H., joined the Ataxia Center in July 2016. She is an Assistant Professor of Neurology and also serves as the Clinical Director of the Johns Hopkins Huntington’s Disease Center of Excellence. Dr. Bang, in addition to caring for patients with ataxia, also cares for people with disorders of cognition and movement, Huntington’s disease, progressive supranuclear palsy, corticobasal degeneration, multiple system atrophy, dementia with Lewy bodies, frontotemporal dementia, and Alzheimer disease. Dr. Bang trained in neurology at Johns Hopkins and completed further study in behavioral neurology at the University of California, San Francisco.

Dr. Ricardo Roda, M.D., Ph.D., is the newest edition to our team, joining the Ataxia Center in the fall of 2017. He earned a combined MD/PhD degree from University of Rochester and completed an adult neurology residency, followed by a clinical neuromuscular fellowship at Johns Hopkins University School of Medicine. During his residency, Dr. Roda developed a special interest in both auto-immune and genetic disorders. Following his residency, he spent three years in the neurogenetics branch of National Institute of Neurological Disorders and Stroke (NINDS) working with Dr. Craig Blackstone, focusing on the use of the newer DNA sequencing techniques in genetic diagnosis, and in establishing genotype/phenotype correlations for neuromuscular disorders, as well as treating patients with ataxia. His current clinical interests include developing testing strategies for undiagnosed genetic disorders and myasthenia gravis.

Donna DeLeno Neuworth, B.A., has been with the Johns Hopkins Ataxia Center as the full-time Health Educator since October 2016. Donna came to the Ataxia Center from the Johns Hopkins University MIND at Home (Maximizing Independence at Home) research study that is designed to help keep people with dementia living safely in their own homes. Previously, Donna worked in the aging and disability field for over 15 years as an advocate and public policy staff director for several aging organizations. She enjoys working with people with ataxia and their care partners, and will be working on expanding the Ataxia Center’s reach to people with ataxia and care partners in the Mid-Atlantic region. The outreach includes developing educational and social programs, creating and distributing the print and e-newsletters and providing resourceful information to patients and care partners. She also assists the Ataxia Center with fundraising events.

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Ataxia Digest

Meet the Johns Hopkins Ataxia Advisory Board Members

John Cernosek, a certified personal trainer, has always had a passion for sports and fitness and continues to swim several times a week, in addition to doing many other fitness activities. He graduated from Saint Joseph’s University in 2005 and worked at a center for independent living as a benefits counselor. John was diagnosed with Friedreich’s Ataxia in 2003. He has been volunteering with the Johns Hopkins Ataxia Center and the Friedreich’s Ataxia Research Alliance for several years, focusing on ways people with ataxia can help themselves. Currently, John works with Dr. Tom Clouse, a general surgeon who was diagnosed with ataxia in 1997. John is assisting Dr. Clouse with starting the company Reclaiming Natural Movement. Dr. Clouse and John have developed a method of training for people with ataxia and other movement disorders to improve their movement.

Aaron A. Nichols, Esq. is currently is an Associate Attorney at Whiteford, Taylor & Preston, LLP. Aaron represents clients in a broad range of business and commercial disputes. His practice focuses on complex litigation, including antitrust and trade regulation cases, class action lawsuits and insurance coverage and defense litigation. In his free time, Aaron enjoys playing golf and volleyball. Aaron joined the ataxia board in 2014. His father was diagnosed with ataxia in the early 2000s. Aaron hopes to help the Ataxia Center raise funds and awareness to further treatment options for those living with ataxia.

Libby Sullivan works as a government secretary for SAMHSA (Substance Abuse and Mental Health Services Administration), a position she has held for seven years. She accepted the invitation to join the Ataxia Advisory Board in November 2017. She was diagnosed with SCA8 in 2007. Libby said she likes to think of ataxia “as an invisible disability, so others do not realize you have anything wrong until you start to move.” Libby added she is very excited to have a platform to be able to educate others about having ataxia. Libby enjoys keeping busy, and her hobbies include: needlework, entertaining and playing games - especially backgammon. Reading and discussing books is an important part of her life so she and a school friend started a book club that has lasted for over ten years. Ataxia is also an important part of her life, but she said it does not define her.

Brian P. “Sully” Sullivan is the owner and Principal at Knowlegiate, LLC, a web and application development studio. He and his wife Libby have been married for 18 years and live in Rockville, Maryland. They enjoy travel, movies, entertaining at home, and spending time with friends. Together, they joined the Mid-Atlantic Ataxia Social Group in October 2012, a few years after Libby’s diagnosis of SCA8. Sully is particularly interested in ways to make our community’s support gatherings as useful and effective as possible, and also in creating and collecting resources and information to share with individuals with ataxia and caregivers that make living with disabilities easier.

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Ataxia Digest

Meet the Johns Hopkins Ataxia Advisory Board Members

Ed Dizon is currently a Strategic Planner at Northrop Grumman, but plans on retiring in early 2018. He enjoys fishing, exercising, being a “do it yourselfer”, and traveling. Ed joined the Ataxia Support Group in March of 2013, shortly after his wife Dawn passed away. Dawn had SCA1 and throughout their 20 year marriage Ed learned a lot about the physical, emotional and spiritual aspects of caregiving during that time. As an Ataxia Advisory Board member, he wants to share his experiences and lessons-learned with the group. Ed’s goals for the board and overall group include: helping patients and care partners enjoy life to the fullest by balancing short and long-term goals, retaining members while also focusing on recruitment, and providing more resources such as “how to” guides, accessibility aides and transportation to and from events.

Shirley McMonigle currently works as a Program Manager at the National Security Agency (NSA). She has worked at NSA and lived in Maryland for 32 years. She is originally from Indiana, moving here upon college graduation to work for the NSA. Shirley’s maternal family is related to President Abraham Lincoln and in 2016 she was diagnosed with the rare SCA 5, as some of President Lincoln’s family members also had SCA 5. With four other siblings, so far, she is the only one who has ataxia symptoms. As rare as SCA 5 is though, many symptoms are the same as other ataxias. As a patient-advocate, Shirley is very concerned with improving and maintaining a good quality of life. Her hobbies now are much simpler than they used to be, but she still enjoys traveling and just this past summer she went on an African Safari to Tanzania. She is looking forward to working with this group of dedicated volunteers and is thankful to be associated with the ataxia community.

Paula Gill has a Bachelor’s of Science degree from Park University and is a senior manager with the Department of Defense. In addition to serving on the Ataxia Advisory Board, she also serves on the American Legion Post 171 Executive Board in Damascus, Maryland. Paula’s husband Shawn was diagnosed with ataxia of unknown origin in 2012 . Paula has been involved with the Ataxia Center and Advisory Board since 2015. Paula’s goals for the Ataxia Network are to help people, fundraise for the Ataxia Center and to promote awareness of the disease. Paula believes the Ataxia Network group fosters a sense of community and acceptance. Paula and Shawn are both Air Force veterans, and like most people approaching retirement, Paula said they were anticipating traveling together in Europe, but ataxia threw them both a real curve ball. “The plans are still there, however, now will require a bit of tweaking!”

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Ataxia Digest

The Johns Hopkins Ataxia Center: How to Become a Patient in Our Clinic

Ataxia Center

Welcome to our Ataxia Center at Johns Hopkins! The first step in the process of becoming one of our patients is to have neurology records sent to us. Please include demographic information (so we know who to contact when we get the records), neurology clinic notes within the past year, reports of your most recent MRI, lab results, and any genetic testing results. These notes can be faxed to 410-630-7900; Attn: Ataxia Center for review by one of our physicians. The decisions to accept a patient into our clinic is based on our neurologist’s assessment of whether the patient would benefit from being seen by physicians and therapists with an expertise in neurodegenerative cerebellar ataxia. Based on review of the clinical records, patients may also be scheduled with a physical therapist, occupational therapist, speech therapist, genetic counselor and for vestibular testing, neurocognitive testing, and/ or neuro-ophthalmology. Our center believes in a multidisciplinary approach to recognizing and treating cerebellar ataxia. All of these appointments are geared towards diagnosing and providing treatment recommendations. Each appointment provides a thorough work up and concentrated care to our patients.

When coming to your appointment day, please make sure to have a copy of the most recent MRI on a CD, and questions to ask your physician. Before you leave the appointment please make sure you have all referrals, orders, prescriptions or refills placed for you. Immediately after the visit please make sure you call to get a follow-up appointment right away, since we tend to book up quickly. We always look forward to assisting in your care!

~ Carrie Berlett, Ataxia Clinic Coordinator

Please consider supporting our center!The work of the Johns Hopkins University Ataxia Center would not be possible without the generous support of the Gordon and Marilyn Macklin Foundation, the National Ataxia Foundation, our patients and the community.

For more information about supporting the center, please contact the Development Office at 443-287-7877.

Mailing Address Johns Hopkins at Green Spring Station 10751 Falls Road, Suite 250, Lutherville, MD 21093

Clinic Address Johns Hopkins Outpatient Center 601 North Caroline Street, Suite 5064, Baltimore, MD 21287

Ataxia Coordinator Carrie Berlett, BS Phone: 410-955-4894 Fax: 410-616-2810 cmokar1@jhmi.edu

Ataxia Digest Editor Donna DeLeno Neuworth, BA, Ataxia Health Educator Phone: 410-616-2811 ddeleno1@jhmi.edu