Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease

Abstract

In X-linked hereditary demyelinating neuropathies (CMTX), caused by mutations in Connexin 32, mild subclinical CNS involvement is not unusual. We present a young male patient suffering from genetically proven CMTX who presented with permanent bilateral corticospinal tract hyperintensities in cranial MRI -- a finding previously described to be characteristic for amyotrophic lateral sclerosis. MRI seems to be able to visualize corticospinal tract abnormalities, even if subclinical, in CMTX.