Vanishing White Matter Disease : A new disease that causes brains to melt away

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  • Vanishing white matter disease : 脳がとけていく新しい病気

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Leukoencephalopathy with vanishing white matter (VWM) is a new autosomal recessive disorder characterized by chronic progressive cerebellar ataxia, spasticity and unique MRI findings. VWM was initially thought to occur only in childhood, but adult-onset cases have also been reported. Cranial MRI shows diffuse and symmetric abnormalities in the cerebral white matter, and part or all of the abnormal white matter has a signal intensity close to that of cerebrospinal fluid on all pulse sequences. Recently, mutations in the genes encoding the subunits of the eukaryotic translation initiation factor 2B (eIF2B) have been identified as the cause of VWM. However, it is not clear how such mutations could cause white matter disease.

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