A case of transthyretin-related cerebral amyloid angiopathy. The other side of hereditary transthyretin amyloidosis. - Université de Lille Accéder directement au contenu
Article Dans Une Revue Acta Neurologica Belgica Année : 2022

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

Résumé

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.
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Dates et versions

hal-04604959 , version 1 (07-06-2024)

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Thibaud Lebouvier, Xavier Delbeuck, Jean-Baptiste Gibier, Celine Tard. A case of transthyretin-related cerebral amyloid angiopathy. The other side of hereditary transthyretin amyloidosis.. Acta Neurologica Belgica, 2022, Acta Neurologica Belgica, 122, pp.571-573. ⟨10.1007/s13760-021-01854-4⟩. ⟨hal-04604959⟩
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