Abstract
Vanishing white matter disease is a rare autosomal recessive leukodystrophy characterized by increasing areas of abnormal white matter that show signal intensities close to those of CSF on all pulse sequences on MRI. The onset is usually in early childhood but juvenile- and adult-onset cases have also been reported. Clinically the disease leads to progressive cerebellar ataxia, spasticity and cognitive decline. The disease is chronic-progressive with additional episodes of rapid deterioration following minor head trauma or febrile infections in most patients. Five genes, EIF2B1–5, have been identified recently for vanishing white matter diases, which encode the five subunits of translation initiation factor eIF2B.
Published Version
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