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Phenotypic continuum of NFU1-related disorders.
Kaiyrzhanov, Rauan; Zaki, Maha S; Lau, Tracy; Sen, Sambuddha; Azizimalamiri, Reza; Zamani, Mina; Sayin, Gözde Yesil; Hilander, Taru; Efthymiou, Stephanie; Chelban, Viorica; Brown, Ruth; Thompson, Kyle; Scarano, Maria Irene; Ganesh, Jaya; Koneev, Kairgali; Gülaçar, Ismail Musab; Person, Richard; Sadykova, Dinara; Maidyrov, Yerdan; Seifi, Tahereh; Zadagali, Aizhan; Bernard, Geneviève; Allis, Katrina; Elloumi, Houda Zghal; Lindy, Amanda; Taghiabadi, Ehsan; Verma, Sumit; Logan, Rachel; Kirmse, Brian; Bai, Renkui; Khalaf, Shaimaa M; Abdel-Hamid, Mohamed S; Sedaghat, Alireza; Shariati, Gholamreza; Issa, Mahmoud; Zeighami, Jawaher; Elbendary, Hasnaa M; Brown, Garry; Taylor, Robert W; Galehdari, Hamid; Gleeson, Joseph J; Carroll, Christopher J; Cowan, James A; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza.
Afiliação
  • Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Lau T; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Sen S; Department of Chemistry and Biochemistry, The Ohio State University, 100 West 18th Avenue, Columbus, Ohio, 43210, USA.
  • Azizimalamiri R; Department of Paediatric Neurology, Golestan, Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Sayin GY; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34098, Turkey.
  • Hilander T; Genetics Section, Molecular and Clinical Sciences, St George's, University of London, London, UK.
  • Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Chelban V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Brown R; Oxford Medical Genetics Laboratories, The Churchill Hospital, Oxford, OX3 7LJ, UK.
  • Thompson K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Scarano MI; Division of Genetics, Cooper Health System, Children's Regional Hospital, Sheridan Pavilion Camden, New Jersy, 08103, USA.
  • Ganesh J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Koneev K; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan.
  • Gülaçar IM; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34098, Turkey.
  • Person R; Department of Genetics, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, 34098, Turkey.
  • Sadykova D; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Maidyrov Y; Astana Medical University, Nur-Sultan, Kazakhstan.
  • Seifi T; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan.
  • Zadagali A; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Bernard G; L.N. Gumilyov Eurasian National University, Nur-Sultan, Kazakhstan.
  • Allis K; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.
  • Elloumi HZ; Division of Medical Genetics, Department Specialized Medicine, McGill University Health Centre, Montreal, Canada.
  • Lindy A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.
  • Taghiabadi E; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Verma S; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Logan R; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Kirmse B; Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Bai R; Department of Neurology, Emory University School of Medicine, Georgia, Atlanta, USA.
  • Khalaf SM; Division of Neurosciences, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
  • Abdel-Hamid MS; Division of Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Sedaghat A; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Shariati G; Pediatrics Department, Assiut University, Assiut, Egypt.
  • Issa M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Zeighami J; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Elbendary HM; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Brown G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
  • Taylor RW; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Galehdari H; Narges Medical Genetics and Prenatal Diagnosis Laboratory, East Mihan Ave., Kianpars, Ahvaz, Iran.
  • Gleeson JJ; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Carroll CJ; Oxford Medical Genetics Laboratories, The Churchill Hospital, Oxford, OX3 7LJ, UK.
  • Cowan JA; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Moreno-De-Luca A; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.
  • Houlden H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Maroofian R; Department of Neurosciences, University of California, San Diego, La Jolla, California, 92093, USA.
Ann Clin Transl Neurol ; 9(12): 2025-2035, 2022 Dec.
Article em En | MEDLINE | ID: mdl-36256512
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Limite: Humans Idioma: En Revista: Ann Clin Transl Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Limite: Humans Idioma: En Revista: Ann Clin Transl Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido