zerebrale ATTR-Amyloidose
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