Evidence map›Paper›PMID 41277402›Full record

ArticleClinical genetics2026

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.

Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S Lynch, Reza Maroofian and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–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. 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

20 authors.

Georgios KoutsisNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.ORCID 0000-0002-8980-8377
Viorica ChelbanDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Chrisoula KartanouNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Zoi KontogeorgiouNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Chrysoula KoniariNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Nikolaos RagazosNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Charalampos VoudommatisNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Kristina ZhelcheskaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
David S LynchDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Reza MaroofianDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Ehsan BarkhordariDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Rahema MohammadDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Ioannis ZaganasNIHR University College London Hospitals Biomedical Research Centre, London, UK.
Minas DrakosDepartment of Neurology, School of Health Sciences, Faculty of Medicine, University of Crete, Crete, Greece.
Georgia XiromerisiouDepartment of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.
Efthymios DardiotisDepartment of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.
Leonidas Stefanis1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Marios PanasNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-2866-7777
Georgia KaradimaNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Funding

Alzheimer's Research UK (ARUK)Association of British Neurologists' Academic Clinical Training Research Fellowship 540868Ataxia UKFidelity TrustGenesis Pharma 13044Guarantors of Brain 565908HSP FoundationKing Baudouin FoundationMANX MSAMichael J Fox Foundation (MJFF)MRC Brainbank NetworkMSA CoalitionMSA TrustNational Institute for Health Research (NIHR) University College London Hospitals Biomedical Research CentreNIH NeuroBioBankRosetrees TrustSpastic Paraplegia Foundation
6 · The paper itself

Abstract

Hereditary spastic paraplegia (HSP) is a neurogenetic disorder characterized by progressive, length-dependent degeneration of the upper motor neurons. We investigated 112 Greek HSP index cases collected over more than 25 years from all regions of the country, using a combination of next generation sequencing and multiplex ligation-dependent probe amplification. In total, we identified a causative variant in 68 patients, corresponding to a diagnostic yield of 60.7%. The diagnostic yield was 62.8% in autosomal dominant HSP, 77.8% in autosomal recessive HSP and 50.0% in sporadic cases. We identified 7 novel causative variants in SPAST, SPG7, and CYP7B1. We found causative variants in a total of 18 different genes. The most commonly involved genes, affecting more than one family, were SPAST (25.0%), SPG11 (12.5%), CYP7B1 (3.6%), SPG7 (3.6%), KIF5A (2.7%), ABCD1 (1.8%) and PSEN1 (1.8%). Variants in ATL1, REEP1, BSCL2, PLP1, WASCHC5, AP5Z1, CYP27A1, SOD1, POLR3A, GFAP and ARG1 were identified in single families. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population, expanding previous data, and contributing to the characterisation of further pathogenic variants linked to HSP.

Indexed as

Genetic Predisposition to DiseaseSpastic Paraplegia, HereditaryAdolescentAdultAgedATPases Associated with Diverse Cellular ActivitiesChildChild, PreschoolCytochrome P450 Family 7FemaleGenetic Association StudiesGreeceHigh-Throughput Nucleotide SequencingHumansMaleMetalloendopeptidasesATPases Associated with Diverse Cellular ActivitiesCYP7B1 protein, humanCytochrome P450 Family 7MetalloendopeptidasesProteinsSpastinSPAST protein, humanSPG11 protein, humanSPG7 protein, humanSteroid HydroxylasesGreeceGreek populationhereditary spastic paraplegiaMLPAnext generation sequencingwhole‐exome‐sequencing

Identifiers

PMID41277402
PMCPMC13066777

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Registered trials

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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 OpenQuestion graph.