Progressive supranuclear palsy is a rare, degenerative CNS disorder causing loss of voluntary eye movements, bradykinesia, muscular rigidity with progressive axial dystonia, pseudobulbar palsy, and dementia.

The cause of progressive supranuclear palsy is unknown. Neurons in the basal ganglia and brain stem degenerate; neurofibrillary tangles containing an abnormally phosphorylated tau protein are also present. Multiple lacunar strokes may occur in the basal ganglia and deep white matter.

Symptoms and Signs

Symptoms usually begin in late middle age. The first symptom may be difficulty looking up without extending the neck or difficulty climbing up and down stairs. Voluntary eye movements, particularly vertical, are difficult, but reflexive eye movements are unaffected. Movements are slowed, muscles become rigid, and axial dystonia develops. Patients tend to fall backward. Dysphagia and dysarthria with emotional lability (pseudobulbar palsy) is common; these deficits occur in a stepwise progression as occurs with multiple strokes. Dementia eventually occurs. Many patients become incapacitated within about 5 yr and die within about 10 yr.

Diagnosis

Diagnosis is clinical.

Treatment
Supportive care

Treatment is unsatisfactory. Occasionally, levodopa, dopamine

agonists and/or
amantadine

partially relieve rigidity.

Because the disorder is fatal, patients should be encouraged to prepare advance directives soon after the disorder is diagnosed. These directives should indicate what kind of medical care people want at the end of life (