High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Oct 2022
Oct 2022
Historique:
received:
10
01
2022
accepted:
01
06
2022
entrez:
14
9
2022
pubmed:
15
9
2022
medline:
15
9
2022
Statut:
epublish
Résumé
Our goal was to study hereditary transthyretin-related amyloidosis (hATTR) in Crete, Greece. We aimed at ascertaining all hATTR cases in Crete, an island of 0.62 million people. For this, we evaluated patients with polyneuropathy, autonomic involvement, cardiomyopathy, and/or ophthalmopathy suggestive of hATTR, who presented to the physicians of this study or were referred to them by other physicians. Genetic analyses were performed on all patients suspected of suffering from hATTR. We included in our observational longitudinal cohort study all individuals, residents of Crete, who, during the study period (1993-2019), were found to carry a pathogenic Over the past 27 years, 30 individuals (15 female patients, 15 male patients), from 12 apparently unrelated families, were diagnosed with hATTR, whereas evaluation of their offspring identified 5 asymptomatic Our study revealed that the prevalence of hATTR in Crete is one of the world's highest. Three different pathogenic
Sections du résumé
Background and Objectives
UNASSIGNED
Our goal was to study hereditary transthyretin-related amyloidosis (hATTR) in Crete, Greece.
Methods
UNASSIGNED
We aimed at ascertaining all hATTR cases in Crete, an island of 0.62 million people. For this, we evaluated patients with polyneuropathy, autonomic involvement, cardiomyopathy, and/or ophthalmopathy suggestive of hATTR, who presented to the physicians of this study or were referred to them by other physicians. Genetic analyses were performed on all patients suspected of suffering from hATTR. We included in our observational longitudinal cohort study all individuals, residents of Crete, who, during the study period (1993-2019), were found to carry a pathogenic
Results
UNASSIGNED
Over the past 27 years, 30 individuals (15 female patients, 15 male patients), from 12 apparently unrelated families, were diagnosed with hATTR, whereas evaluation of their offspring identified 5 asymptomatic
Discussion
UNASSIGNED
Our study revealed that the prevalence of hATTR in Crete is one of the world's highest. Three different pathogenic
Identifiants
pubmed: 36101541
doi: 10.1212/NXG.0000000000200013
pii: NNG-2022-200016
pmc: PMC9465837
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e200013Informations de copyright
Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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