Evidence map›Paper›PMID 36101541›Full record

ArticleNeurology. Genetics2022

High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.

Minas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, Miltiadis Tsilimbaris, Kleita Michaelidou, Lambros Mathioudakis, Anastasios Marinis, Emmanouil Giannakoudakis, Cleanthe Spanaki, Irene Skoula and 8 more

Open access · goldAbstract read
In one paragraph

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 38% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Primary oculoleptomeningeal transthyretin amyloidosis with subarachnoid hemorrhages, visual loss, and heart and skin amyloid deposits.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors at 4 institutions in 1 country.

Minas TzagournissakisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Emmanouil FoukarakisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Dimitrios SamonakisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Miltiadis TsilimbarisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Kleita MichaelidouNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Lambros MathioudakisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Anastasios MarinisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Emmanouil GiannakoudakisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Cleanthe SpanakiNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Irene SkoulaNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Sofia ErimakiNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Georgios AmoiridisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Georgios KoutsisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Sofia KoukourakiNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Kostas StylianouNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Andreas PlaitakisNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Panayiotis D MitsiasNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
Ioannis ZaganasNeurology Department (M. Tzagournissakis, C.S., S.E., P.D.M., I.Z.), University Hospital of Heraklion; Cardiology Department (E.F.), Venizelion General Hospital of Heraklion; Gastroenterology Department (D.S.), and Ophthalmology Department (M. Tsilimbaris), University Hospital of Heraklion; Neurogenetics Laboratory (K.M., L.M., A.M., I.S., G.A., A.P., I.Z.), Medical School, University of Crete, Heraklion; Neurology Department (E.G.), Venizelion General Hospital of Heraklion, Crete; Eginition Hospital (G.K.), Medical School, University of Athens; Nuclear Medicine Department (S.K.), University Hospital of Heraklion; and Renal Medicine Department (K.S.), University Hospital of Heraklion, Crete, Greece.
The General Hospital of Heraklion "Venizeleio-Pananio" · GREginition Hospital · GRNational and Kapodistrian University of Athens · GRUniversity Hospital of Heraklion · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Our goal was to study hereditary transthyretin-related amyloidosis (hATTR) in Crete, Greece. Methods: 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: 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: Our study revealed that the prevalence of hATTR in Crete is one of the world's highest. Three different pathogenic

Identifiers

PMID36101541
PMCPMC9465837
OpenAlexW4295038174

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