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

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.