Leukoencephalopathy with vanishing white matter

Leukoencephalopathy with vanishing white matter
Classification and external resources
OMIM	603896 603945 606273 606454 606686 606687 603896 603945 606273 606454 606686 606687 (CACH/VWM) CARASIL: 610149 600142 602194 600142 602194 CADASIL: 125310 600276 125310 600276
GeneReviews	CARASIL Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Maeda Syndrome Childhood Ataxia with Central Nervous System Hypomylenation/Vanishing White Matter CADASIL
[]

603896 603945 606273 606454 606686 606687 603896 603945 606273 606454 606686 606687 (CACH/VWM)
CARASIL: 610149 600142 602194 600142 602194

Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor EIF-2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5. The disease belongs to a family of conditions called the Leukodystrophies.

Onset usually occurs in childhood, however some adult cases have been found. Generally, physicians look for the symptoms in children. Symptoms include cerebellar ataxia, spasticity, optic atrophy, epilepsy, loss of motor functions, irritability, vomiting, coma, and even fever has been tied to VWM. The neurological disorders and symptoms which occur with VWM are not specific to countries; they are the same all over the world. Neurological abnormalities may not always be present in those who experience onset as adults. Symptoms generally appear in young children or infants who were previously developing fairly normally.

...
Wikipedia