Abdel-Hamid MS

Allis K

Azizimalamiri R

Bai R

Bernard G

Brown G

Brown R

Carroll CJ

Chelban V

Cowan JA

Efthymiou S

Elbendary HM

Elloumi HZ

Galehdari H

Ganesh J

Gleeson JJ

Gulacar IM

Hilander T

Houlden H

Issa M

Kaiyrzhanov R

Khalaf SM

Kirmse B

Koneev K

Lau T

Lindy A

Logan R

Maidyrov Y

Maroofian R

Moreno-De-Luca A

Person R

Sadykova D

Sayin GY

Scarano MI

Sedaghat A

Seifi T

Sen S

Shariati G

Taghiabadi E

Taylor RW

Thompson K

Verma S

Zadagali A

Zaki MS

Zamani M

Zeighami J

\ua9 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.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

Newcastle University E-Prints

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Phenotypic continuum of <em>NFU1</em>-related disorders

Phenotypic continuum of <em>NFU1</em>-related disorders

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