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Urano publishes research on elevated plasma neurofilament light chain levels in patients with Wolfram Syndrome 

Fumihuko Urano, MD, PhD
Urano

On April 12, Fumihiko Urano, MD, PhD and colleagues had their research titled, “Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome,” published in “Frontiers in Neuroscience.” 

“Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with progressive neurodegeneration. As an easily accessible biomarker of progression of neurodegeneration has not yet been found, accurate tracking of the neurodegenerative process over time requires assessment by costly and time-consuming clinical measures and brain magnetic resonance imaging.”  

Neurofilament light chain (NfL) is a clinical biomarker of neurodegenerative diseases. Urano and collaborators used a blood-based measurement of NfL to determine whether its levels could be used to reflect disease activity in Wolfram syndrome. When comparing NfL levels between children and young adults with Wolfram Syndrome, they determined that “higher NfL levels related to worse visual acuity, color vision and smell identification, smaller brainstem and thalamic volumes, and faster annual rate of decrease in thalamic volume over time.” 

In conclusion, their findings suggest that “plasma NfL levels can be a powerful tool to non-invasively assess underlying neurodegenerative processes in children, adolescents and young adults with Wolfram syndrome.” 

Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome