cerebral transthyretin-associated amyloidoses

Cerebral involvement can be seen transthyretin-associated amyloidoses and presents as a neurodegenerative disease.

Epidemiology

Age of presentation is very wide, ranging from adolescence to old age .

Clinical presentation

Clinical presentation is variable, but includes:

• dementia
• spastic paresis
• seizures
• recurrent parenchymal and subarachnoid hemorrhages

The diagnosis is often not made during life, unless specific gene testing is performed, once the diagnosis is suspected.

Pathology

Cerebral transthyretin-associated amyloidoses have been linked to a rare mutation of the transthyretin gene (chromosome 18q11.2-12.1), the product of which is a transport protein by the same name, responsible for transport of thyroxin-binding and retinol-binding peptides. Dysfunction of transthyretin results in accumulation of these peptides and the formation of amyloid deposits .

Radiographic features

Unfortunately, no specific features exist, and appearances are those of cerebral amyloid angiopathy (CAA) . Features therefore include:

• multiple parenchymal hemorrhages of various age and size
• superficial siderosis due to repeated subarachnoid hemorrhage

Differential diagnosis

• cerebral amyloid angiopathy (CAA)
  • indistinguishable on imaging
  • usually only seen in elderly patients

Siehe auch:

• Zerebrale Amyloidangiopathie

und weiter:

• ATTR-Amyloidose