Cerebral involvement can be seen transthyretin-associated amyloidoses and presents as a neurodegenerative disease.
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Epidemiology
Age of presentation is very wide, ranging from adolescence to old age 1.
Clinical presentation
Clinical presentation is variable, but includes 1:
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 1.
Radiographic features
MRI
Unfortunately, no specific features exist, and appearances are similar to those of sporadic cerebral amyloid angiopathy (CAA) 1. Features therefore may include 2:
multiple parenchymal hemorrhages of various age and size
cortical superficial siderosis due to repeated convexal subarachnoid hemorrhage
microinfarcts
While these features exist, it is worth noting that many patients with transthyretin-associated amyloidoses may have cardiac devices, which may preclude them from having an MRI 3.
Differential diagnosis
-
cerebral amyloid angiopathy (CAA)
indistinguishable on imaging
usually only seen in elderly patients