Recognizing MSA: Multiple System Atrophy

What is Multiple System Atrophy (MSA)?

According to the National Institute of Neurological Disorders and Stroke (NINDS), MSA is a “progressive neurodegenerative disorder characterized by a combination of symptoms that affect both the autonomic nervous system (the part of the nervous system that controls involuntary action such as blood pressure or digestion) and movement. The symptoms reflect the progressive loss of function and death of different types of nerve cells in the brain and spinal cord.”

Symptoms may include:

  • Fainting spells
  • Problems with heart rate
  • Bladder control
  • Tremors
  • Loss of muscle coordination
  • Speech problems
  • Gait impairment
  • Rigidity

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Like many other neurodegenerative diseases, some symptoms of MSA can be treated with medications, but there is currently no cure or means of halting progression.

MSA vs. Parkinson’s Disease

While many symptoms can mimic those of Parkinson’s disease (PD), often making it difficult to distinguish a diagnosis in the early stages, MSA typically progresses much more rapidly than PD. Within a few years of initial symptoms, majority of MSA patients will require a cane or walker to aid in getting around.

Moving Towards a Cure

Researchers at Penn, and outside of Penn, continue to work vigorously for answers that will help benefit and improve the lives of those suffering from MSA.

“I would say that, although research in any rare disease is challenging, there have been advances in MSA, from the generation of animal models that are essential to understand the disease and develop new therapies, to several clinical trials that have already been completed in patients with this disorder,” explained Pedro Gonzales-Alegre, MD, PhD, associate professor of Neurology, Division of Movement Disorders at the University of Pennsylvania. “There are also efforts to develop better imaging biomarkers that will help us better diagnose MSA and monitor disease progression of the disease in clinical trials.”

In order to continue in this upward direction, raising awareness, knowledge, and advocacy becomes increasingly important. One of the key players in MSA awareness is CurePSP, a close partner of Penn Medicine. CurePSP is a nonprofit advocacy organization whose mission is to increase the public’s knowledge of prime of life diseases such as progressive supranuclear palsy (PSP), Corticobasal degeneration (CBD), and MSA. They define a prime of life disease as a condition that often strikes during a person’s most productive and rewarding years.

The video below, courtesy of CurePSP, shares the touching story of James Wark, MD, a child neurologist, who is now living with Multiple System Atrophy, and the struggles that he and his family have been faced with since his diagnosis.

 

Multiple System Atrophy Awareness Month

March is Multiple System Atrophy Awareness Month. Show your support on Facebook and Twitter with the banner and message below:

March is #MSAAwarenessMonth! Help spread the word and learn more about #MSA here: http://bit.ly/1LqYaTM

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Corticobasal Degeneration: When it looks, sounds, and acts like Parkinson’s… but it’s not.

What is Corticobasal Degeneration?

Corticobasal degeneration (CBD) is often misdiagnosed as Parkinson’s disease. As defined by the
National Institute of Neurological Disorders and Stroke (NINDS), CBD is a neurological disorder that is characterized by cerebralcortex_basalganglianerve cell loss and shrinkage of multiple areas of the brain including the cerebral cortex and basal ganglia. Much like other neurodegenerative diseases, CBD is progressive, gradually worsening over time.

CBD classically presents itself as a movement disorder, typically affecting one side of the body before the other, but can also impact cognition. Since some symptoms can mirror those of Parkinson’s, one of the most useful signs of Corticobasal degeneration is apraxia. Apraxia refers to an individual’s inability to perform certain movements not because of physical muscle damage, but due to neurological damage.

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Other symptoms include difficulty controlling the muscles of the face and mouth, stiffness, shakiness, and slowness in either the upper or lower extremities, difficulty with speech and articulation, and memory and/or behavioral problems. These symptoms usually occur around the age of 60, although, symptom onset can be as early as 40.

“CBS (corticobasal syndrome) and Parkinson’s disease can clinically be difficult to distinguish but have very different underlying pathologies,” explained David Irwin, MD, Instructor of Neurology, University of Pennsylvania. “Current research efforts are focused on differentiating the underlying diseases (differentiating inclusions formed from alpha-synuclein, tau, amyloid and TDP-43) to help direct promising therapies targeting these proteins.”

While occupational, physical, and speech therapy can help manage CBD, there is currently no cure or treatment to slow the progression of the disease, and most symptoms are generally resistant to possible therapeutic strategies.

You can find more information on CBD at:

National Institute of Neurological Disorders and Stroke

Penn’s Frontotemporal Degeneration Center

CurePSP

The Association for Frontotemporal Degeneration

Frontotemporal Degeneration: It’s more than just dementia

What is Frontotemporal Degeneration (FTD)?

FRONTOTEMPORALLOBES
FTD is an aging-related neurodegenerative disease affecting the frontal and temporal lobes of the brain, disrupting a variety of functions such as behavior, personality, language, movement, and in some cases, cognition.

According to the Association for Frontotemporal Degeneration (AFTD), the most telltale sign of FTD is a gradual and progressive decline in behavior and/or language. As the disease progresses, planning and organizing activities, behaving appropriately in public settings, and socializing generally become increasingly difficult for individuals with FTD.

The disease often occurs in a person’s 50s or 60s, but has been seen as early as 21 and as late as 80. It is the most common form of dementia in people under 60 years old.

Is FTD inherited?

When asked during a past Q&A with the Boston Globe, Murray Grossman, MD, director of Penn’s FTD Center, explained that FTD can be inherited, but that it is not typically the case. “Twenty-five percent of the patients we see with FTD have a high-risk family history,” he said, but the remaining 85 percent are considered “sporadic FTD.” In sporadic FTD, there is no known cause—genetic or environmental—and researchers are still searching for any signs of genetic changes that may be responsible for these random cases.

Is FTD curable?

There is currently no cure or treatment for FTD.

Some medications such as antidepressants, neuroleptics (antipsychotics), and dopaminergic agents used in Parkinson’s disease, can be prescribed to help manage symptoms, but should be treated on a case-by-case basis as there is always a risk for worsening symptoms, adverse reactions, and other unfavorable side effects.

A Family’s FTD Story

The video below, produced by CurePSP, tells the story of artist David Wetzl and his journey with Frontotemporal degeneration and gives a first-hand look at exactly what this disease can strip from you in your prime of life.

To learn more about FTD, visit:
The Penn FTD Center
The Association for Frontotemporal Degeneration


RELATED EVENT:

Penn FTD Center Caregiver Conference

 On May 20, 2016, the University of Pennsylvania’s Frontotemporal Degeneration Center will host their Annual FTD Caregiver Conference. This day-long event is for caregivers and anyone else interested in learning more about FTD and related conditions such as Amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) and Corticobasal Degeneration (CBD).

This event is free and open to the public. Registration is required and opens on April 8, 2016.

Event Details:
Friday, May 20, 2016
8:00am – 4:30pm
Smilow Center for Translational Research
3400 Civic Center Boulevard
Philadelphia, PA 19104

For more information on the event, including the agenda, participating advocacy groups, and giving opportunities, please contact:
Christine Ray at rayc@mail.med.upenn.edu or (215) 349-5873

Out of town? If you plan on traveling to Philadelphia for the conference from another city or state, please visit the University of Pennsylvania’s visitor page for information on local accommodations.

To see coverage from last year’s 2015 FTD Caregiver Conference, click here.

Progressive Supranuclear Palsy: A “prime of life disease”

Progressive supranuclear palsy (PSP) is a rare brain disorder that affects the nerve cells in the brain that control walking, balance, mobility, vision, speech, and swallowing and gradually worsens over time. It affects an estimated three to six in every 100,000 people worldwide—or approximately 20,000 Americans—according to the National Institute of Neurological Disorders and Stroke (NINDS).

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While one of the most classic identifying symptoms for PSP is the inability to aim and move the eyes properly, the most frequent first symptom to arise is the loss of balance while walking. This can appear in the form of unexplained falls, stiffness, or awkwardness in gait.

Some symptoms are very similar to those in Parkinson’s disease, including stiffness, movement problems, and clumsiness for example, but PSP, true to its name, progresses much quicker. Other distinctions between the two disorders are seen symptomatically through things like postural differences—people with PSP tend to stand exceptionally straight or with their head tilted backwards whereas people with PD are typically bent forward—while others have more to do with the pathology of the disease. In PSP, the most prominent protein accumulation seen in the brain is tau, but the most prominent protein found in a Parkinson’s brain is alpha-synuclein.

Living with Progressive Supranuclear Palsy

In the CurePSP produced video below, hear one family’s touching story of how a PSP diagnosis has changed their lives.

A close partner of the neurodegenerative disease-related centers here at Penn, CurePSP identifies as one of the leading nonprofit advocacy organization focused on prime of life diseases with the goal of understanding their causes and discovering potential treatments, and has funded more than 160 research studies. 

* CurePSP recognizes the following as prime of life diseases: Progressive Supranuclear Palsy (PSP), Corticobasal Degeneration (CBD), Primary Progressive Aphasia (PPA), Motor Neuron Disease (MND), Lewy Body Dementia (LBD), Frontotemporal Degeneration (FTD), Amyotrophic Lateral Sclerosis (ALS), Parkinson’s Disease (PD), Alzheimer’s Disease (AD), and  Multiple System Atrophy (MSA).

Rare Disease Day 2016

If you were asked to name an aging-related neurodegenerative disease, what would you say?

Your answer would most likely be Alzheimer’s, Parkinson’s, or ALS (Lou Gehrig’s disease). While these are a few of the most well-known conditions of their kind, there are actually many others that can be just as debilitating and devastating for patients and their loved ones.

On Monday, February 29, 2016, people around the world will take part in Rare Disease Day to help raise awareness amongst the general public, as well as decision makers–including but not limited to policy makers, industry representatives and researchers–about uncommon, and often overlooked, diseases and their impact on patients’ lives. Over the course of the week leading up to Rare Disease Day, the IOA will share a series of blog posts focusing on some of the lesser-known neurodegenerative and age-related diseases that affect the aging community.

Thousands of events are held around the world to recognize Rare Disease Day, including one right here in Philadelphia hosted by Penn Medicine’s Orphan Disease Center and Keswick Cycle. This will also kick off Penn’s 2016 Million Dollar Bike Ride, an annual cycling event to raise funds for rare disease research. For more information, click here.

Stay tuned for our series of Rare Disease Day posts!
Don’t forget, you can always subscribe and have our posts sent directly to your e-mail! For desktop, click the “+Follow” tab in the lower right hand corner. For mobile, simple scroll down until you see an area to fill in your email and click “Follow.” See below:

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NIA Director, Dr. Richard Hodes pays visit to Penn

Last month, President Obama announced an overall increase of two billion dollars to the National Institutes of Health (NIH) budget, with more than $350 million of this specifically earmarked for Alzheimer’s research, the largest-ever annual increase in federal Alzheimer’s research funding. On the heels of this announcement, National Institute on Aging (NIA) Director, Dr. Richard J. Hodes, MD, paid a rare visit to the University of Pennsylvania to hear from Penn researchers and clinicians working in the fields of aging, neuroscience, and immunology.

Hodes spent day 1 with aging and neuroscience experts from the IOA and Penn’s Center for Neurodegenerative Disease Research (CNDR). He participated in a series of round-table discussions wherein he offered advice, welcomed feedback on NIH/NIA funding processes and experiences, and learned about many of the different projects underway here at Penn.

The day began with a series of conversations with basic science researchers spanning a broad range of topics, including the genetics and basic biology of aging, featuring the work of Jerry Schellenberg, PhD, and Li-San Wang, PhD, in using the human genome to identify Alzheimer’s disease and related dementias and Brad Johnson, MD, PhD, and colleagues in understanding the biological forces that influence the development of AD. Johnson’s lab in primarily interested in telomeres, the structures that cap the ends of chromosomes, and how human aging is influenced by their maintenance and dysfunction.

Additional topics included the IOA and CNDR’s focus on training the next generation of researchers at all levels. This discussion, led by Virginia M.-Y. Lee, PhD, MBA, highlighted the work of several graduate and MD, PhD, students, some of whom started their connection with the IOA and CNDR as early as high school or during their undergraduate years. A conversation about drug discovery rounded out the morning sessions.

The afternoon commenced with a discussion with researchers from Penn’s Center for Health Incentives and Behavioral Economics and its work to improve public health economics and understand who in the population advanced directives should most be targeting, and more. Researchers from the Population Aging Research Center (PARC) and Penn’s NIA-funded P30 Center on the Demography and Economics of Aging also reviewed with Hodes their work in domestic and international factors in the demography and economics of aging including financial literacy and decision-making as well as ongoing studies involving their cohort of low-income communities in Africa to understand how aging is different in these populations.

The day concluded with presentations from Penn Nursing’s NewCourtland Center for Transitions and Health. Center representatives participating in the discussion shared their work focusing on cost and care of rehospitalization, ethical challenges in better understanding informed consent incentives, and more.

Two common themes that weaved their way through many of these discussions were the high importance the Penn placed on training the next generation of scientists and healthcare providers, and the benefit and impact of Pilot programs, a series of grants to provide seed funding for innovative research to junior faculty and young scientists, in launching research careers.

Of course, it is no surprise that the recent increase in the Alzheimer’s research budget was another popular subject. Many researchers outside of the Alzheimer’s realm questioned how, if at all, this may influence funding in their particular areas of research. In response, Dr. Hodes broadly recommended and stressed the importance of making any and all connections to Alzheimer’s and related dementias explicitly emphasized in upcoming proposals, without being misleading. With this in mind, he applauded the abundance of collaborations across centers here at Penn and strongly encouraged continuing down that path for future studies.

“I believe we presented Dr. Hodes with a close-up, in-depth look at a very broad and representative swath of all the aging and neuroscience research currently underway here at Penn that has the potential to influence our biological understanding of Alzheimer’s and related dementias now and into the future, and the clinical research and disease modifying therapies to help better treat, protect, and understand patients with AD and related dementias,” explained IOA Director, John Q. Trojanowski, MD, PhD. “We also reviewed Penn programs that focus on other key aspects of healthy aging and aging related demographic changes with the long term goal of improving the overall health of elders in our rapidly aging society.”