PSP and why it's so important to me

Hi! I’m Siya, and I welcome you to my first blog! In a nutshell, this blog has too many feelings, but a good amount of (simplified) biology. So, if you’re a learner, like me, with a craze to just find out new things, read on! This is my first ever blog (if based on the lack of correct punctuation and so many run-on sentences, you haven’t already guessed, well, I’m not much of a writer) and I’m always open to feedback (you can reach me through the “contact me” section). But, hey! I’m trying to be real and taking this (scary) step towards something I truly believe in, so, let’s dive right in!

I vividly remember being afraid of one person as a young child- my nana (maternal grandfather)-a tall, plump Sardar with a neatly tucked beard and a standard red turban. A very simple man, my nana believes in hard-work, compassion and equality, all of which I aim to instill in myself. I was his first grandchild and he loved writing, so without a second of hesitation, my mother tells me, he penned down a poem for my third birthday, gifting me a barbie-themed makeshift vanity table in hopes of making me less afraid of him and promising friendship! Not only was his brain sharp and creative, but he also lead a very healthy and active life until his mid 70s, which was when he started experiencing symptoms of which would later be diagnosed as Progressive Supranuclear Palsy (PSP). Me being a biology-nerd with a desire to know as much as I could possibly find out, I spent the next many weeks researching about this disease. I learned about how it was a rare disease and the lack of research in this field, but the one major thing that really bothered me was that everything was very complicated, at least for students like me. I realized that no one really found the need to simplify all the scary words into easier language, which was probably one of the reasons why general public never knew about such diseases. I have always been interested in neuroscience and understanding how and why our dynamic brain functions the way it does. So, I put two and two together, and decided that I’ll convert all my personal notes from those weeks of research for my nana into a simple blog post, as a means of helping people understand the disease while creating more awareness and sensitivity towards rare diseases like PSP. But there was more, I wished to do this for more diseases I had seen around me, in friends and family members, and just like that, my idea for a blog turned into this proper website! Launching this website in February was really important to me because February is rare disease awareness month (because it has a “rare” number of days) and 29th of February is marked as rare disease awareness day. This February, I hope to reach out to as many people as I can, as an attempt to promote the discussion around rare diseases, and give non-professionals (students, family members, supporters-everyone) a voice in it.

PSP (also known as Steele-Richardson-Olszewski syndrome, an eponym of the researchers who first defined the disease) is a progressive and irreversible disease which means that symptoms worsen with time and cannot be reversed. It is a sporadic disease, occurring rarely with unknown causes, but years of research has found that the nerve cells (neurons) in the brains of PSP patients deteriorate as a result of an abnormal amount of tau proteins being present in the neuron. The nerve cell is made of 3 major parts: the cell body (containing the nucleus with the genetic information and other organelles which control the functioning of the cell), axon (which transmits messages in the form of electric impulses), dendrites (which receive these messages and pass them to the cell body) which branches into axon terminals (form junctions called synapses with other cells). When an electric impulse passes along the axon and reaches the axon terminal, the vesicles (sac-like structures responsible for containing and transporting materials) release their contents-neurotransmitters (chemical messengers)-into the synaptic cleft (the space between two neurons). The neurotransmitters diffuse across, from the first neuron to the next and bind with the receptor molecules on the dendrites of the second neuron, thus passing on the message.

Diagram 1: structure of neuron and synapse

The axon has structures called microtubules that assist it in its function and tau proteins binds to them in order to stabilise them. Excess deposits of tau are caused by high activity of tau kinases (enzymes which act on tau). The excess tau proteins clump together and form tangles which are toxic to the brain. Thus, eventually, neurons start deteriorating. This occurs in other diseases like Alzheimer’s disease as well (I have drawn diagrams as an aid and you can now refer to diagrams 1 and 2)

Diagram 2: microtubules and tau proteins in healthy vs diseased neurons

The effects of the loss of neurons can be seen in patients with PSP in the form of loss of balance when walking (gait) and stiffness, causing frequent falls. My grandfather first experienced symptoms two years ago and they have worsened significantly in the last one year. His style of walking has become stiff and he used to fall down often until he got full-time help. PSP patients find it tough to move their gaze vertically. As a result, they move their head in the direction they wish to look at. This can now be seen in my nana along with involuntary blinking and keeping eyes closed for a long period of time. In addition to this, swallowing hard food has become a problem and he often chokes on food, water and saliva, resulting in a persistent cough. His speech has become slow and he experiences severe mood swings, sometime having anger outbursts (something which is very inconsistent with his general personality) and other times, uncontrollable pangs of laughter.

Parkinsonism is an overarching, umbrella term for neurodegenerative diseases with similar symptoms like PD, PSP, Multiple System Atrophy (MSA), Corticobasal Syndrome (CBS) etc. The common symptoms in all these diseases are slow movement (bradykinesia), stiffness and imbalanced walking (gait). After PD, PSP is the most common form of Parkinsonism. Yet, it is very rare: approximately 20,000 Americans are diagnoses with PSP and 50,000 with PD each year. Due to this, there are often misdiagnoses and confusion between PD and PSP. Hence, it is very important to distinguish between these two diseases and so, I have created the following diagram (diagram 3) highlighting the similarities and differences based on the research done.

Diagram 3: similarities and differences between PSP and PD

Currently, there is no effective treatment for PSP. Various procedures are used to ease some of the symptoms like gastrostomies when swallowing becomes really difficult in order to prevent choking. Research in this field is being carried out since many years but no cause has been determined yet. While some scientists work on that, others are finding ways to predict the presence of PSP and stop the accumulation of tau proteins (previous research carried out has established a correlation between the presence of the tau protein gene (MAPT) and having PSP). I personally believe that we should work towards increasing the quality of life of such patients because I myself have seen the effects of PSP not only on my grandfather, but also our entire family. There is a lot of emotional trauma attached to such diseases, both for the patient and the family. Patients often experience depression and the family constantly deals with anxiety due to the rather unpredictable nature of the symptoms. Realistically, preventing such diseases requires many more years of research, and so in the short-term we should normalise the discussion of mental health and quality of life.

Since before my grandfather was diagnosed with PSP, I have been interested in neuroscience and this process of researching for him has helped me learn more in this field. This blog was basically a simplified brain dump in hopes of helping general people to better understand rare diseases like PSP without having to sit through multiple, technical papers. I felt that if I advocated for PSP and more such diseases by simplifying the content, I would be able to reach out to more (non-professional) people, giving them a voice in this discussion. I am currently working on a review paper where I analyse the prominent work done in the field of PSP. I truly hope that this blog and the review paper helps you in some way. If you’ve stayed till here, I want to take a moment to thank you from the bottom of my heart, because just by reading this you’ve helped me accomplish my goal of creating more awareness.

Until next time…

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References: Progressive supranuclear palsy. (2020, February 07). Retrieved from https://www.mayoclinic.org/diseases-conditions/progressive-supranuclear-palsy/symptoms-causes/syc-20355659#:~:text=Researchers have found that the,palsy occurs within a family.

Progressive Supranuclear Palsy Fact Sheet. (n.d.). Retrieved from https://www.ninds.nih.gov/Disorders/patient-caregiver-education/fact-sheets/Progressive-Supranuclear-Palsy-fact-sheet

Association, European Parkinson's Disease. “What Is Parkinsonism? Myths, Misconceptions and Facts.” What Is Parkinsonism? Myths, Misconceptions and Facts | European Parkinson's Disease Association, www.epda.eu.com/latest/news/what-is-parkinsonism-myths-misconceptions-and-facts/

Pîrşcoveanu DFV;Pirici I;Tudorică V;Bălşeanu TA;Albu VC;Bondari S;Bumbea AM;Pîrşcoveanu M; “Tau Protein in Neurodegenerative Diseases - a Review.” Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/29556602/.