Titre :

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

Auteur(s) :

Lebouvier, Thibaud [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Delbeuck, Xavier [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Gibier, Jean-Baptiste [Auteur]
Miniaturisation pour la Synthèse, l'Analyse et la Protéomique (MSAP) - USR 3290
Tard, Celine [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172

Titre de la revue :

Acta Neurologica Belgica

Nom court de la revue :

Acta Neurol Belg

Numéro :

122

Pagination :

571–573

Date de publication :

2022-01-19

ISSN :

2240-2993

Mot(s)-clé(s) en anglais :

Cerebral amyloid angiopathy
Hereditary transthyretin amyloidosis
Transient focal neurological episodes
Cognitive assessment
Peripheral neuropathy
RNA interference
TTR-stabilizing agents

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

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 ...
Lire la suite >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.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172
• Miniaturisation pour la Synthèse, l'Analyse et la Protéomique (MSAP) - USR 3290

Date de dépôt :

2024-05-06T22:59:22Z
2024-06-07T12:30:33Z