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Phenotypic Continuum of Nfu1-Related Disorders Publisher Pubmed



Kaiyrzhanov R1 ; Zaki MS2 ; Lau T1 ; Sen S3 ; Azizimalamiri R4 ; Zamani M5 ; Sayin GY6 ; Hilander T7 ; Efthymiou S1 ; Chelban V1 ; Brown R8 ; Thompson K9 ; Scarano MI10 ; Ganesh J11 Show All Authors
Authors
  1. Kaiyrzhanov R1
  2. Zaki MS2
  3. Lau T1
  4. Sen S3
  5. Azizimalamiri R4
  6. Zamani M5
  7. Sayin GY6
  8. Hilander T7
  9. Efthymiou S1
  10. Chelban V1
  11. Brown R8
  12. Thompson K9
  13. Scarano MI10
  14. Ganesh J11
  15. Koneev K12
  16. Gulacar IM6, 13
  17. Person R14
  18. Sadykova D15
  19. Maidyrov Y12
  20. Seifi T5
  21. Zadagali A16
  22. Bernard G17, 18, 19
  23. Allis K14
  24. Elloumi HZ14
  25. Lindy A14
  26. Taghiabadi E20
  27. Verma S21
  28. Logan R22
  29. Kirmse B23
  30. Bai R14
  31. Khalaf SM24
  32. Abdelhamid MS25
  33. Sedaghat A26
  34. Shariati G27, 28
  35. Issa M2
  36. Zeighami J28
  37. Elbendary HM2
  38. Brown G8
  39. Taylor RW9, 29
  40. Galehdari H5
  41. Gleeson JJ30, 31
  42. Carroll CJ7
  43. Cowan JA3
  44. Morenodeluca A32
  45. Houlden H1
  46. Maroofian R1

Source: Annals of Clinical and Translational Neurology Published:2022


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. © 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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