DEGENERATIVE DISEASES AFFECTING THE CEREBRAL CORTEX-Progressive Supranuclear Palsy

Question 1

What is Progressive supranuclear palsy?

Answer 1

It is an illness characterized clinically by:

• truncal rigidity with
• dysequilibrium and nuchal dystonia;
• pseudobulbar palsy and abnormal speech;
• ocular disturbances, including vertical gaze palsy progressing to difficulty with all eye movements;
• **and mild progressive dementia in most affected individuals. **

Question 2

When is the onset of progressive supranuclear palsy?

Answer 2

The onset of the disease is usually between the fifth and seventh decades, and males are affected approximately twice as
frequently as are females.

The disease is often fatal within 5 to 7 years of onset.

MALES 5th to 7th decade!!!!!

Question 3

What is the morphology of progressive supranuclear palsy?

Answer 3

There is widespread neuronal loss in the globus pallidus, subthalamic nucleus, substantia nigra, colliculi, periaqueductal gray matter, and dentate nucleus of the
cerebellum.

Globose neurofibrillary tangles are found in these affected regions, in neurons
as well as in glia.

Ultrastructural analysis reveals 15-nm straight filaments that are composed 4R.

Question 4

What is the pathology of progressive supranuclear palsy?

Answer 4

Mutations in the MAPT gene have not been found in progressive supranuclear palsy.

However, MAPT contains a series of polymorphisms in linkage dysequilibrium that fall into two haplotypes,
one of which is highly over-represented in individuals with progressive supranuclear palsy.

How
this haplotype influences the risk of the disease is unknown