Adult-onset vanishing white matter disease (VWMD)

Takashi Matsukawa

Department of Neurology, The University of Tokyo Hospital

Vanishing white matter disease (VWMD) is an autosomal recessive leukodystrophy caused by mutations of EIF2B1-5 which encode five subunits of the eukaryotic translation initiation factor 2B (eIF2B). eIF2B is involved in regulating protein synthesis especially under stressful environments. Typically, patients develop progressive ataxia, lower limb spasticities and cognitive decline in childhood, characterized by acute neurological deterioration caused by fever, minor head trauma and sudden terror. Recently, adult onset or slowly progressive patients are increasingly reported. Brain MR images show diffuse white matter lesions. A part of white matter lesions show low signal intensity areas similar to spinal fluid in FLAIR images.

Address correspondence to Dr. Takashi Matsukawa, Department of Neurology, The University of Tokyo Hospital(7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan)