Evidence map›Paper›PMID 39730482›Full record

ArticleScientific reports2024

Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study.

Ellie Mitsi, Christina Votsi, Pantelitsa Koutsou, Anthi Georghiou, Christiana C Christodoulou, Kleopas Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoulou, Paschalis Nicolaou

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

9 authors.

Ellie MitsiNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Christina VotsiNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Pantelitsa KoutsouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Anthi GeorghiouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Christiana C ChristodoulouNeuroepidemiology Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Kleopas KleopaNeuroscience Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Eleni Zamba-PapanicolaouNeuroepidemiology Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Kyproula ChristodoulouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Paschalis NicolaouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. paschali@cing.ac.cy.

Funding

Telethon Cyprus 73234
6 · The paper itself

Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disease of motor neurons, presenting with relentlessly progressive muscle atrophy and weakness. More than fifty genes carrying causative or disease-modifying variants have been identified since the 1990s, when the first ALS-associated variant in the gene SOD1 was discovered. The most commonly mutated ALS genes in the European populations include the C9orf72, SOD1, TARDBP and FUS. Understanding the genetic causes of ALS within a population is becoming more significant, especially in light of the possible development of personalized medicine. Here, we provide clinical and genetic data on familial and sporadic ALS patients in a Greek-Cypriot population-based cohort. Eighty-nine ALS patients, including 21 familial ALS (fALS) (23.6%) and 68 sporadic ALS (sALS) (76.4%), provided the cohort for variant screening of the most common ALS-associated genes. Moreover, next-generation sequencing (NGS) was also performed to identify rare ALS variants, and in silico prediction tools were applied to predict the downstream effect of the variants detected in our study. The pathogenic hexanucleotide G

Indexed as

Amyotrophic Lateral SclerosisC9orf72 ProteinAdultAgedCohort StudiesCyprusDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMolecular EpidemiologyMutationRNA-Binding Protein FUSC9orf72 ProteinC9orf72 protein, humanDNA-Binding ProteinsFUS protein, humanRNA-Binding Protein FUSSOD1 protein, humanSuperoxide Dismutase-1TARDBP protein, humanAmyotrophic lateral sclerosisCyprusEpidemiologyGeneticsPopulation-based study

Identifiers

PMID39730482
PMCPMC11680926

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.