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TUFM-variants lead to white matter abnormalities mimicking multiple sclerosis.

Shihan ChenGrant A MitchellJean-Francois SoucyJulie GauthierBernard BraisRoberta La Piana
Published in: European journal of neurology (2023)
Our report broadens the phenotypic and radiological spectrum of TUFM-related disorders by adding milder, later-onset forms to the previously known early-onset, severe presentations. The presence of multifocal white matter abnormalities can be misinterpreted as due to acquired demyelinating diseases and thus, TUFM-related disorders should be added to the list of mitochondrial MS mimickers.
Keyphrases
  • white matter
  • early onset
  • multiple sclerosis
  • late onset
  • oxidative stress
  • copy number
  • mass spectrometry
  • ms ms
  • dna methylation