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Signs It Could Be More Than Parkinson’s Disease

Signs It Could Be More Than Parkinson’s Disease

Close to one million people in the US have a diagnosis of Parkinson’s disease (PD). Unfortunately, for a small percentage of these people the diagnosis just doesn’t seem right. They feel like something more is wrong. Their medicines may not be very effective. They might have severe dizziness and even be prone to fainting. They just sense the disease is progressing faster than expected.

So, what is it? Is it Parkinson’s disease or is it something else?

The answer is not easy, but many who feel they have more than Parkinson’s may in fact have multiple system atrophy (MSA). MSA is a very rare disorder that has similarities and features of Parkinsonism. However, it is so rare that many physicians are unfamiliar with it and so the diagnosis is not considered. As a result, a likely diagnosis of MSA might be delayed by years and even missed all together. What’s more, due to many symptoms that could possibly be attributed to other conditions diagnosing MSA can be challenging, even to the most experienced doctors. This can be very frustrating to those who know it is more than PD.

Signs It Might Be Multiple System Atrophy Instead of Parkinson’s Disease?

Here are some clues as to whether it is multiple system atrophy or Parkinson’s disease. One of the easier distinctions is between PD and MSA-C (the cerebellar type). If the patient presents with unsteadiness while walking, uncoordinated arms and legs, bladder disturbance and/or dizziness when standing the diagnosis is more likely to be MSA-C. On the other hand, if a person looks Parkinsonian the distinction can be harder, but there are clues:

  • In the earlier stages of MSA-P (Parkinsonian type), which is often when people have just been told they have Parkinson’s disease, some patients will fall often. Frequent falls also occur in Parkinson’s disease, but it typically occurs 10-15 years after diagnosis.
  • In patients with MSA the classic Parkinson’s drug L-Dopa may work initially but will stop working very quickly. It can continue working in PD patients for many years.
  • Dementia is not associated with MSA however, it does occur in patients with lewy body Parkinson’s disease.
  • Early autonomic nervous system symptoms such as low blood pressure when standing (neurogenic orthostatic hypotension) and issues with the bladder are often signs of possible MSA in patient’s diagnosed with Parkinson’s.
  • Vocal cord issues are less common but very typical in MSA and much less common in PD. Some examples include difficulty getting words out, odd sighs and even falling asleep during a conversation.

The above are clues, so if you suspect something more is wrong than Parkinson’s it is important to visit movement disorder or autonomic nervous system specialist for further evaluation and testing,

Knowing that it is MSA and not Parkinson’s is Important!

Over the years MSA Coalition Board Members have heard the frustration about a slow diagnosis after the initial diagnosis of Parkinson’s. While MSA is fatal, knowing the correct diagnosis, is still important.

Multiple system atrophy affects “multiple systems” in the body. As a result, while there are not MSA specific treatments, treating the various symptoms from sleep disorders, urinary and bowel issues, blood pressure control, etc. can vastly improve quality of life. The earlier an MSA patient is diagnosed, the earlier doctors can establish a plan of action to improve symptoms that can be very disabling. Another factor is that Parkinson’s medications typically stop working in MSA patients.

An early diagnosis also allows patients and their families to spend quality time together while they are still able. It also provides time to prepare for end-of-life issues, such as preparing wills and living wills.

Research To Find MSA Biomarkers and an Earlier MSA Diagnosis

An important goal of the Coalition’s MSA Research Program is to fund and encourage the development of biomarkers to distinguish PD from MSA at a much earlier stage. The stakes are high. An accurate biomarker could lead to quicker development of treatments. In fact, a concern in past clinical trials of MSA treatments that failed is that maybe the patients in the trial are too late stage to show effectiveness. Increasing the number of known early stage MSA patients could improve the likelihood of finding treatments and even a cure.

20 Years of alpha-synuclein in Parkinson’s disease and related synucleiopathies: from the bedside to the bench and back to the patient

20 Years of alpha-synuclein in Parkinson’s disease and related synucleiopathies: from the bedside to the bench and back to the patient

Janice Holton, Director of Neuropathology, Queen Square Brain Bank, UCL Institute of Neurology, London, UK

Athens, Vravrona: I was fortunate to participate in this excellent meeting held in an idyllic location on the coast near Athens, Greece. The local organising committee, led by Professors Leonidas Stefanis and Kostas Vekrellis, created a fascinating programme attracting speakers and researchers from around the world. The relaxed and friendly atmosphere allowed participants with different skills and perspectives to interact, learn from each other and develop collaborations.

the alpha-synucleine conference 2017

The Alpha-Synucleine Conference, 2017

The programme commenced with a clinical workshop at which a series of interesting clinical cases were presented for discussion, some having the benefit of a neuropathological diagnosis. This led to a lively exchange of ideas and was a great learning experience for the audience, which included a number of young clinicians. This was complemented by the subsequent talk presenting the state of the art current treatment strategies for Parkinson’s disease (PD). The first day culminated in a fantastic presentation by Professor Fahn who led us through the intriguing story of the development of treatments for PD leading to the introduction of dopamine therapy 50 years ago, thus revolutionising the treatment of PD and providing huge benefit to the lives of patients.

Professors Leonidas Stefanis with Pam Bower, MSA Coalition

At the heart of the meeting was the recognition 20 years ago that mutation in SNCA, the gene encoding alpha-synuclein, was the cause of inherited PD in families originating from the village of Contursi in Italy. The story of how this mutation was disseminated from Greece to Italy in ancient times was elegantly presented by Professor Barone. The discovery of a mutation in SNCA, together with the subsequent demonstration that alpha-synuclein is a major component of Lewy bodies, the neuronal inclusions that characterise PD pathology, and also the cellular inclusions in multiple system atrophy (MSA), has been of crucial importance in our current understanding of these diseases. We were treated to a marvellous talk by Professor Spillantini who described how alpha-synuclein was first recognised in Lewy bodies by herself and colleagues in Cambridge. Professor Hardy provided an overview of the genetics of PD, discussing additional mutations in SNCA and the many other genetic discoveries that have been made in the past 20 years that provide insight into genetic risk and disease mechanisms in PD.

The MSA Coalition Table Top Display

The scientific sessions and poster presentations catered to the wide range of participants by covering many topics relating to clinical and neurobiological aspects of alpha-synucleinopathies including the presentation of original work. The structure of the meeting included a round table discussion at the end of each scientific session providing a lively forum for discussion between speakers and the audience. Topics covered included sporadic and genetically linked forms of PD associated with mutations in SNCA, LRRK2 and GBA. Dementia with Lewy bodies and sleep behaviour disorders were also discussed in detail.

A session devoted to MSA was very well attended and prompted lively discussion. The presentations covered clinical aspects, including an in depth discussion of the difficulties of diagnosis presented by Dr Stamelou. The neuropathology of this rare condition was described including presentation of the insights that neuropathological studies provide into the mechanisms of disease. In further talks the contributions of cell biology and animal models to understanding MSA were clearly outlined. Many of the presentations relating to the neurobiology of alpha-synucleinopathies had direct relevance for the understanding of MSA. Presentations addressing the cellular function of alpha-synuclein, protein degradation and clearance, protein aggregation and the interesting concept of the spread of pathology within the brain were considered in detail by many speakers. We were privileged to hear from experts in all of these fields and to gain insight into the current research aiming to enhance our understanding of disease mechanisms in alpha-synucleinopathies, including MSA, with the purpose of developing disease modifying therapies. In the final session of the meeting it was exciting to hear reports from representatives of pharmaceutical companies regarding new treatments entering clinical trials.

This wide-ranging meeting was stimulating for all involved in investigating MSA and PD bringing together the wide community of researchers in all clinical and scientific aspects of these diseases. The involvement and support of organisations including the MSA Coalition was widely acknowledged and appreciated. I look forward to the opportunity of participating in the next meeting two years from now and I am confident that much progress will have been made.