Cerebral transthyretin-associated amyloidoses

Last revised by Rohit Sharma on 23 Feb 2024

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

Age of presentation is very wide, ranging from adolescence to old age 1

Clinical presentation is variable, but includes 1:

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

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

Unfortunately, no specific features exist, and appearances are similar to those of sporadic cerebral amyloid angiopathy (CAA) 1. Features therefore may include 2:

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.

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