Editor’s Note: These are brief notes from Elizabeth Wong about what she got out of the presentation and what she learned from the Q&A.
Brain Donation: Providing Answers and Fueling Research
Brain donation is a powerful gift that provides families with definitive answers and accelerates the search for treatments and cures for neurological disorders like Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD). Robin Riddle from Brain Support Network (BSN), an organization that has assisted over 1,400 families nationally with this process, outlined the critical importance and logistics of brain donation.
Why is Brain Donation Essential?
- Diagnostic Certainty: It's the only way to confirm a specific neurological diagnosis. Clinical diagnoses, especially for atypical parkinsonism, can be uncertain. For instance, clinical accuracy for PSP-Parkinsonism is only around 41%, and for CBD, BSN's data suggests it might be less than 33%. Donation provides crucial clarity for families.
- Enabling Research: Donated brain tissue is invaluable for understanding disease causes, developing treatments, and finding cures. It's essential for validating new diagnostic tools like skin biopsies and tau imaging, and past donations have led to breakthroughs in understanding disease subtypes (like Richardson syndrome in PSP) and genetic factors (confirming PSP is rarely inherited).
How Brain Support Network Helps
Arranging a brain donation requires careful planning, coordination between multiple parties (family, pathology service, funeral home), and meeting a strict 24-hour deadline after passing. BSN specializes in navigating this complex process. They recommend the Mayo Clinic Brain Bank for PSP/CBD cases due to their expertise and flexible criteria (no minimum time since diagnosis) and assist families with all necessary arrangements and coordination, including obtaining medical records.
Addressing Costs and Getting Started
While families typically cover the pathology service cost, a $1,000 grant from CurePSP can significantly offset this expense for PSP and CBD cases. BSN, a non-profit, requests a charitable contribution or memorial donations to sustain their work.
Planning ahead is key. Brain Support Network offers resources and forms on their website ([You would insert the actual website link here if known, e.g., brainsupportnetwork.org]) for families considering donation, whether planning in advance or facing an immediate need.
Ultimately, brain donation is a profound contribution that helps individual families find answers while benefiting the entire community striving to overcome these challenging diseases.
For more information on Brain Support Network visit their website.
“PSP and CBD Brain Donation”
Presented during Progressive Supranuclear Palsy/Corticobasal Degeneration Symposium
Speaker: Robin Riddle, Brain Support Network
Symposium Host: Brain Support Network and Stanford Movement Disorder Clinic
Symposium Date: June 29, 2024
Summary by: Elizabeth Wong, Stanford Parkinson’s Community Outreach
Brain Support Network is an organization dedicated to assisting people nationally with the process of brain donation. BSN helps families throughout the United States, although there have been some difficulties in a few rural states, such as Alaska and Montana. To date, they have successfully assisted over 1,400 individuals with brain donation.
The Primary Reason for Donation: Confirming Diagnosis
The primary reason to consider brain donation is that it provides the only definitive way to confirm a neurological diagnosis like Progressive Supranuclear Palsy (PSP) or Corticobasal Degeneration (CBD). Several doctors emphasized this point earlier today when discussing whether a condition is confirmed CBD or confirmed PSP. Two panelists during the symposium also spoke about arranging brain donations for their family members through Brain Support Network. For both, it was the sole method to confirm the diagnosis. Confirming the diagnosis is only possible through brain donation.
Challenges in Clinical Diagnosis Accuracy
The accuracy of a clinical diagnosis can be quite variable. For PSP, accuracy depends on the specific subtype. Richardson syndrome (also known as PSP-RS) has an approximate 86% diagnostic accuracy rate, meaning the neurologist's clinical diagnosis is correct 86% of the time. However, for PSP-Parkinsonism, the accuracy drops to only about 41%. Common misdiagnosis for the parkinsonism form of PSP include Parkinson's disease, due to the symptom overlap, which contributes to the difficulty in diagnosis. For CBD, robust statistics are lacking. Anecdotally, based on the 1,400 cases Brain Support Network has facilitated, the diagnostic accuracy for CBD is less than one-third. This implies that while the neurologist is correct about one-third of the time, two-thirds of individuals clinically diagnosed with CBD are found to have a completely different disorder upon autopsy.
The Second Key Reason: Enabling Critical Research
A second crucial reason for brain donation is its role in enabling research. It facilitates investigations into accurate diagnoses, potential treatments, cures, and the underlying causes of PSP, CBD, and all neurological diseases.
Validating Biomarkers: An Ongoing Need for Donation
Significant research is underway using skin biopsies to diagnose Parkinson's Disease, Lewy body dementia, and Multiple System Atrophy. Researchers are also exploring tau imaging for diagnosing PSP and CBD. The validation of these promising biomarkers hinges entirely on brain donation. Individuals participating in skin biopsy or tau imaging studies must donate their brains upon passing so researchers can confirm the accuracy of these diagnostic tools. Consequently, brain donation will remain critically important for validating biomarkers, even as these new technologies advance.
Past Discoveries Fueled by Brain Donation
Brain donation studies have already been instrumental in clarifying the various subtypes of PSP and CBD. We now understand distinct types like Richardson syndrome and PSP-Parkinsonism thanks to a brain donation study conducted a couple of decades ago. Before that study, these subtypes were not recognized. I recall when my own father had PSP, when I co-founded a local support group, I often found myself questioning if other members' parents truly had PSP because their experiences sounded so different from my dad's. Coincidentally, the study identifying the two key PSP types was published the same year we started the group. Similarly, research has identified four key types of corticobasal degeneration: CBS and three other types. Again, this knowledge comes solely from brain donation studies.
A landmark genome-wide association study on PSP, published in 2011, included over 1,100 brains with confirmed PSP diagnoses; I'm proud that my father's brain was among them. This study identified three new genes highly associated with PSP. Researchers determined that possessing just one of these genes was insufficient to cause PSP; multiple associated genes were necessary. This finding taught us that PSP is only loosely inherited. Having a parent with PSP does not significantly increase one's own risk compared to the general population. As an adult child, this genetic study provided me with personally valuable information.
Requirements for Arranging Brain Donation
Arranging a brain donation involves several requirements: obtaining family consent, securing neurological records, ensuring a pathology service is available daily, and finding a cooperative funeral home (with someone available daily). If finding a cooperative funeral home is challenging, Brain Support Network has workarounds. Crucially, advanced arrangements must be made due to the strict 24-hour deadline for brain recovery after someone passes. It is also best to work with a brain bank that possesses expertise in PSP and CBD.
Recommended Brain Bank: Mayo Clinic
Brain Support Network recommends the Mayo Clinic Brain Bank due to their extensive collection of PSP and CBD brains. They require medical records in advance but importantly, have no minimum time frame requirement from diagnosis to donation. This contrasts with some brain banks that might require a diagnosis for five years or more before eligibility. This flexibility is vital, as individuals like my father lived less than four years after diagnosis. Mayo Clinic also actively publishes research on PSP and CBD, unlike some other brain banks. Furthermore, families receive the pathology report relatively quickly, typically within about 100 days.
How Brain Support Network Assists Families
There are challenges associated with using the Mayo Clinic Brain Bank. Families are required to make their own arrangements, which is precisely where the Brain Support Network provides assistance. Brain Support Network manages all the arrangements in advance. We coordinate communication and logistics among the family, the funeral home or body donation program, the pathology service, the hospice or care facility, and any clinics needed to obtain medical records. With our experience handling over 1,400 brain donations, we are adept at obtaining medical records efficiently on behalf of families.
Costs, Grants, and Supporting Brain Support Network
Families also typically bear the cost of the pathology service. However, CurePSP, the sponsor of today's conference, generously offers a $1,000 grant to families coping with PSP and CBD, which can significantly offset or even cover these costs, potentially making the donation free or minimal in expense for the family.
For our services, we request a "Pay It Forward" charitable contribution of $750 or more from each family we assist. Many families also choose to request memorial donations to Brain Support Network in lieu of flowers, either instead of or in addition to the contribution. We rely on the generosity of the families we help to support our ongoing work.
Getting Started with Brain Donation Planning
Our website features a document outlining the brain donation process. To initiate assistance, you can fill out the "Advanced Planning" form, the "Immediate Need" form, or an "Urgent Need" form if the passing has already occurred. The website also contains numerous case studies and a list of frequently asked questions.
Conclusion: A Collective Effort Towards Cures
We would be honored to assist your family, just as we have helped over 1,400 families to date. My father's donation was number one (PSP confirmed), and my father-in-law's was number 1,000 (Parkinson's disease confirmed). We are committed to moving forward and would be happy to help your family, because supporting your family in this way helps all of us advance the search for causes and cures for these challenging diseases like PSP and CBD, which I am sorry you all have to confront. Anything we can achieve together to find causes and cures is a wonderful endeavor.