Cerebral transthyretin-associated amyloidoses

A.Prof Frank Gaillard et al.

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 those of cerebral amyloid angiopathy (CAA) 1. Features therefore include:

Neurodegenerative diseases

Neurodegenerative diseases are legion and their classification just as protean. A useful approach is to divide them according to underlying pathological process, although even using this schema, there is much overlap and thus resulting confusion.

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Article information

rID: 13057
Synonyms or Alternate Spellings:
  • Transthyretine associated cerebral amyloidoses
  • Transthyretine associated cerebral amyloidosis
  • Cerebral transthyretin-associated amyloidosis

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