supranuclear palsy, progressive, 1

Progressive supranuclear palsy, progressive, 1—often called classic progressive supranuclear palsy or Richardson syndrome—is a late-onset neurological condition that primarily affects movement, balance, and eye control. It is linked to changes in the MAPT gene, which provides instructions for the tau protein that supports the brain’s structural framework. Symptoms usually begin in the sixth decade of life or later and affect people of all genders. The disorder is considered uncommon, affecting roughly 1 to 9 people per 100,000. Because PSP can look like other movement disorders, a confirmed genetic diagnosis helps individuals and families make informed decisions about care and planning.

The earliest signs often involve subtle changes in balance and gait. Many individuals notice unexplained falls, difficulty maintaining an upright posture, and a sense of stiffness or slowed movement that resembles Parkinson disease but does not improve with standard Parkinson medications. As the condition progresses, a characteristic eye movement problem called vertical supranuclear gaze palsy makes it hard to look up or down quickly, leading to further instability and visual complaints. Speech may become slow or slurred, and swallowing can become challenging, increasing the risk of choking. Cognitive and behavioral changes—such as mild memory problems, slowed thinking, or impulsivity—may also emerge over time. Less common or later-developing features include dystonia (abnormal muscle posturing), blepharospasm (forceful eyelid closure), and reduced tear production, which can cause eye discomfort. Brain imaging often shows cerebral atrophy, and microscopic examination reveals neurofibrillary tangles made of abnormal tau protein, although these findings are identified after specialized studies rather than through routine clinical care. Not all individuals experience every feature, and severity and rates of progression vary widely between people. Regular discussion with healthcare providers helps individuals anticipate which symptoms to watch for and when to seek targeted interventions.

Variants in the MAPT gene disrupt production or function of the tau protein, leading to abnormal tau accumulation in brain cells and gradually impairing nerve signaling. The condition is inherited in an autosomal dominant pattern, meaning one altered copy of MAPT is enough to increase the chance of developing symptoms. Each child of an affected individual has a 50 percent chance of inheriting the variant, but the age at which symptoms appear and their severity can differ considerably among family members (variable expressivity). Some people who inherit the variant may remain symptom-free until very late in life, underscoring the value of genetic counseling when discussing predictive testing, family planning, and emotional readiness for results.

Currently, management focuses on supportive care tailored to each person’s needs, as no disease-modifying therapies have been approved for classic PSP. Physical and occupational therapy can help optimize mobility and teach strategies to prevent falls, while speech-language therapy addresses swallowing safety and communication changes. Medications may be used to ease rigidity, mood changes, or sleep disturbances, though benefits vary. Long-term management includes regular surveillance for potential complications such as aspiration pneumonia, malnutrition, or severe postural instability. A multidisciplinary team—often involving neurology, rehabilitation specialists, nutrition, and speech therapy—coordinates care and adjusts interventions as the condition evolves. Patients should discuss available options with their healthcare team to decide which strategies align best with their goals and quality-of-life priorities.

Progressive supranuclear palsy is generally considered a slowly progressive neurodegenerative disorder, but the tempo and specific challenges differ from person to person. Some individuals retain the ability to walk independently for several years, while others require mobility aids earlier due to frequent falls and stiffness. Difficulties with swallowing and balance are the complications most likely to impact overall health, yet supportive interventions and prompt treatment of secondary issues can enhance comfort and extend independent function. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists experienced in movement disorders and to seek genetic counseling for guidance on testing, symptom monitoring, and future planning.

Clinical trials are underway exploring new treatment approaches aimed at modifying tau pathology, relieving symptoms, or slowing progression. Individuals interested in research participation can search ClinicalTrials.gov or speak with their care team about eligibility and potential benefits or risks of enrollment.