Evidence map›Paper›PMID 36256512›Full record

ArticleAnnals of clinical and translational neurology2022

Phenotypic continuum of NFU1-related disorders.

Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban and 36 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 61% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

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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

46 authors at 20 institutions in 7 countries.

Rauan KaiyrzhanovDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID https://orcid.org/0000-0003-1640-4010
Maha S ZakiHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Tracy LauDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID https://orcid.org/0000-0003-0514-1729
Sambuddha SenDepartment of Chemistry and Biochemistry, The Ohio State University, 100 West 18th Avenue, Columbus, Ohio, 43210, USA.
Reza AzizimalamiriDepartment of Paediatric Neurology, Golestan, Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Mina ZamaniDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Gözde Yeşil SayinDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34098, Turkey.
Taru HilanderGenetics Section, Molecular and Clinical Sciences, St George's, University of London, London, UK.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Viorica ChelbanDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-5817-6290
Ruth BrownOxford Medical Genetics Laboratories, The Churchill Hospital, Oxford, OX3 7LJ, UK.
Kyle ThompsonWellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Maria Irene ScaranoDivision of Genetics, Cooper Health System, Children's Regional Hospital, Sheridan Pavilion Camden, New Jersy, 08103, USA.
Jaya GaneshDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Kairgali KoneevDepartment of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan.
Ismail Musab GülaçarDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34098, Turkey.
Richard PersonGeneDx, Gaithersburg, Maryland, 20877, USA.
Dinara SadykovaAstana Medical University, Nur-Sultan, Kazakhstan.
Yerdan MaidyrovDepartment of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan.
Tahereh SeifiDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Aizhan ZadagaliL.N. Gumilyov Eurasian National University, Nur-Sultan, Kazakhstan.
Geneviève BernardDepartments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.
Katrina AllisGeneDx, Gaithersburg, Maryland, 20877, USA.
Houda Zghal ElloumiGeneDx, Gaithersburg, Maryland, 20877, USA.
Amanda LindyGeneDx, Gaithersburg, Maryland, 20877, USA.
Ehsan TaghiabadiSkin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Sumit VermaDepartment of Neurology, Emory University School of Medicine, Georgia, Atlanta, USA.ORCID https://orcid.org/0000-0003-1992-4556
Rachel LoganDivision of Neurosciences, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
Brian KirmseDivision of Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Renkui BaiGeneDx, Gaithersburg, Maryland, 20877, USA.
Shaimaa M KhalafPediatrics Department, Assiut University, Assiut, Egypt.
Mohamed S Abdel-HamidMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Alireza SedaghatHealth Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Gholamreza ShariatiDepartment of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Mahmoud IssaHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.ORCID https://orcid.org/0000-0002-3899-2821
Jawaher ZeighamiNarges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
Hasnaa M ElbendaryHuman Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
Garry BrownOxford Medical Genetics Laboratories, The Churchill Hospital, Oxford, OX3 7LJ, UK.
Robert W TaylorWellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Hamid GalehdariDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Joseph J GleesonDepartment of Neurosciences, University of California, San Diego, La Jolla, California, 92093, USA.
Christopher J CarrollGenetics Section, Molecular and Clinical Sciences, St George's, University of London, London, UK.
James A CowanDepartment of Chemistry and Biochemistry, The Ohio State University, 100 West 18th Avenue, Columbus, Ohio, 43210, USA.
Andres Moreno-De-LucaDepartment of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, 17822, USA.ORCID https://orcid.org/0000-0002-2732-4043
Henry HouldenDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
National Hospital for Neurology and Neurosurgery · GBGenVec · USNational Research Centre · EGAhvaz Jundishapur University of Medical Sciences · IRShahid Chamran University of Ahvaz · IRChurchill Hospital · GBIstanbul University · TRKazakh National Medical University · KZSt George's, University of London · GBThe Ohio State University · USAssiut University · EGAstana Medical University · KZAutism & Developmental Medicine Institute · USChildren's Healthcare of Atlanta · USChildren’s Institute · USCooper University Health Care · USEmory University · USIcahn School of Medicine at Mount Sinai · USJackson Memorial Hospital · USL. N. Gumilyov Eurasian National University · KZ

Funding

Characterizing the spectrum of genomic and phenotypic variation in cerebral palsyR01HD104938 · NICHD · GEISINGER CLINIC · PI Scott Myers · 2022 to 2026
$3.4M
Novel Therapeutic Approaches to Pathogen InactivationR21AI072443 · NIAID · OHIO STATE UNIVERSITY · PI COWAN, JAMES A · 2009 to 2010
$398k
Medical Research Council G0802760Medical Research Council G1001253Medical Research Council MR/J004758/1Medical Research Council MR/S01165X/1Medical Research Council MR/W019027/1NIAID NIH HHS R21 AI072443NICHD NIH HHS R01 HD104938Wellcome TrustWellcome Trust 104033
6 · The paper itself

Abstract

Bi-allelic variants in Iron-Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early-onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra-rare bi-allelic NFU1 missense variants associated with a spectrum of early-onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. Reversible or irreversible neurological decompensation after a febrile illness was common in the cohort, and there were invariable white matter abnormalities on neuroimaging. The study suggests that MMDS1 and HSP could be the two ends of the NFU1-related phenotypic continuum.

Indexed as

Spastic Paraplegia, HereditaryAllelesCarrier ProteinsHumansIronMutation, MissensePhenotypeCarrier ProteinsIronNFU1 protein, human

Identifiers

PMID36256512
PMCPMC9735368
OpenAlexW4306733120

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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.