A case of transthyretin-related cerebral amyloid angiopathy. The other side of hereditary transthyretin amyloidosis.

Abstract

The target organs for familial transthyretin amyloidosis are typically the nerves, the heart or even the eyes due to the accumulation of amyloid deposits. Less frequently, these deposits can occur within the central nervous system and drive a specific phenotype of cerebral amyloid angiopathy. We report the case of a 72-year-old woman showing evidence of cerebral amyloid angiopathy, in a context of hereditary transthyretin amyloidosis (hATTR) due to p.(Ser77Tyr) mutation of the TTR gene. Her cognitive assessment on a two-year follow-up was remarkably steady. A very limited number of patients with hereditary transthyretin amyloidosis associated with a cerebral amyloid angiopathy have been reported. Few characteristics could distinguish them from classic cerebral amyloid angiopathy, and more data are needed to highlight specific features. Screening for peripheral neuropathy should be considered for patients referred to memory clinic for atypical cerebral amyloid angiopathy.

• Authors: B Lemarchant, T Lebouvier, X Delbeuck, J B Gibier, C Tard
• Journal: Acta neurologica Belgica (Acta Neurol Belg) Vol. 122 Issue 2 Pg. 571-573 (Apr 2022) ISSN: 2240-2993 [Electronic] Italy
• PMID: 35040071 (Publication Type: Case Reports, Letter)
• Copyright: © 2021. Belgian Neurological Society.

Chemical References

• Prealbumin

Topics

• Amyloid Neuropathies, Familial (complications, diagnosis, genetics)
• Central Nervous System
• Cerebral Amyloid Angiopathy (complications, genetics)
• Female
• Humans
• Prealbumin (genetics)