exams of relatives of patients with PSP show no more definite abnormalities than exams of relatives of healthy people.
However, two different variants in the gene on chromosome 17 that encodes the tau protein are more common in PSP than in the rest of the population. One of the variants is called the H1 haplotype. About 95 % of people with PSP have this variant on both of their copies of chromosome 17, while this is true for only about 60 % of people without PSP. So clearly, the H1 haplotype is( nearly) necessary but far from sufficient to cause the disease. We don’ t yet know how that version of the tau gene actually affects brain cells. It may increase the amount of tau protein produced or it may change the chemical properties of the protein.
Over the past two decades, a handful of other gene variants not on chromosome 17 have been found to be more common in people with PSP than in people without PSP. These genes help control a variety of critical processes inside of brain cells. More research is needed to identify how these insights can translate into possible PSP prevention and treatment.
How can I get involved in research in PSP? There is important research being done to look for genetic and environmental contributors to the cause of PSP, as well as research on tests that can lead to more accurate diagnosis and improved care of PSP. Many people with PSP find that participation in research is a meaningful way to help doctors and scientists understand, diagnose, and treat PSP and related diseases. Additionally, participants in clinical trials may benefit from a new treatment that is not generally available and may receive detailed care and attention that is not part of routine medical care.
Because of the rarity of PSP, there can sometimes be the challenge of not having enough eligible people to be included in drug trials. To properly test a drug and understand its impact, patients need to be recruited from a number of sites. CurePSP is working hard to build partnerships with pharmaceutical and biotechnology companies to develop interest and funding for the study of PSP and related diseases. Additionally, CurePSP funds research through various grant programs and supports collaborative research projects through its growing CurePSP Centers of Care network of medical centers across the United States and Canada.
In the United States, clinical trials are listed on a website maintained by the National Institutes of Health, www. clinicaltrials. gov. You can enter“ progressive supranuclear palsy” into the search box. You can also ask your neurologist if they are aware of studies in PSP or consult curepsp. org for that information.
Donating your brain to science can be a powerful contribution to the understanding of PSP and other neurodegenerative conditions. Each donated brain is also evaluated by a trained neuropathologist to confirm that the diagnosis of PSP was correct. Setting up brain donation needs to occur early, ideally months or even years prior to someone passing away. Visit www. psp. org / ineedsupport / braindonation to learn about CurePSP’ s Brain Donation Assistance Program.
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What can I do to support myself and my family with this diagnosis? Building a support team around you is foundational to quality of care and life with PSP. Your support team may consist of your partner, family, friends, support group, religious community, healthcare team, professional care, and others— people who care about you and show up for you.
When living with a chronic and progressive diagnosis, it is important to find the right medical team to support your needs with PSP over time. PSP needs to be managed by a neurologist. This could be a general neurologist, but, if available in your area, you may also choose to work with a neurologist