In honor of today, Rare Disease Day, we’re looking at a few of the rare neurodegenerative diseases. Do you know someone with a rare disease? What have been your greatest challenges?
Amyotrophic Lateral Sclerosis (ALS) is linked to Frontotemporal Lobar Degeneration (FTLD). Parkinson’s disease (PD) is linked to Alzheimer’s disease (AD). Progressive Supranuclear Palsy (PSP) is caused by an abnormal accumulation of tau, a protein that plays a role in AD.
It may sound like an alphabet soup of diseases, but these intertwined diseases are changing the way we look at, and hope to treat, progressive neurodegenerative diseases attacking the brain.
For diseases historically considered in the domain of distinct neurological sub-specialties – movement disorders, neuromuscular conditions, and dementia – the steady increase in our understanding of their overlapping causes and symptoms, as well as their co-existence in the same individual, has led to a shift in how care is delivered. Physicians, nurse practitioners, therapists, and other care-team members are cross-training and collaborating more than ever.
Rachel Gross, MD, now an assistant professor of Neurology in the Perelman School of Medicine at the University of Pennsylvania, noticed the overlap as she completed advanced training in Neurology. She decided to get dual-trained in both Cognitive Neurology and Movement Disorders while completing her fellowship at Penn. “I realized that patients who suffer from diseases characterized by a movement disorder and dementia would appreciate seeing one physician who can address both their motor and cognitive issues.”
At the recent FTLD Caregiver Conference, hosted by the Penn FTLD Center, we saw how neurological sub-specialties are blending, overlapping, and informing each other. For instance, researchers are now considering FTLD and ALS to be on the same spectrum of disease. Some people may start with the physical stiffness seen in Lou Gehrig’s disease, while someone else – with the same underlying protein markers – starts with FTLD-symptoms like behavioral outbursts or language mix-ups.
Some of the less common neurodegenerative diseases are also informing the more common diseases. Last year, we reported genetic clues on risk factors and biological causes of a rare neurodegenerative disease called progressive supranuclear palsy (PSP). Biologically, PSP is primarily caused by an abnormal accumulation of tau protein, which is well-known for its secondary role in Alzheimer’s disease.
Pieces of research – genetics, biomarker tests, imaging, pathology, and clinical symptoms – are starting to come together to give us a better picture of neurodegenerative disease. The team of researchers and clinicians, at Penn and beyond, are in a race to find a cure. The more experts battling neurodegenerative diseases, the better!