leukoencephalopathy with vanishing white matter

rare autosomal recessive disorder [MIM 603896] marked by extensive cystic degeneration of white matter, due to mutations in the genes for the subunits of eukaryotic initiation factor 2B, a heteropentameric guanine nucleotide exchange factor that regulates cell translation. Synonym(s): childhood ataxia with diffuse central nervous system hypomyelination

leukoencephalopathy with vanishing white matter

A leukodystrophy of childhood onset (OMIM:603896) characterised by progressive cerebellar ataxia, spasticity, variable optic atrophy and relatively preserved mental abilities. Leukodystrophy with vanishing white matter is usually slowly progressive, but may undergo rapid deterioration after fever or minor head trauma. Clinical variants include a severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba (Cree leukoencephalopathy), and a milder form affecting females who survive to adolescence and exhibit ovarian dysfunction (ovarioleukodystrophy).
Molecular pathology
Defects in EIF2B1, which encodes a subunit of eukaryotic translation initiation factor 2B (EIF2B), an essential regulator of protein synthesis, are a cause of leukodystrophy with vanishing white matter.

单词	leukoencephalopathy with vanishing white matter
释义	leukoencephalopathy with vanishing white matter leukoencephalopathy with vanishing white matter rare autosomal recessive disorder [MIM 603896] marked by extensive cystic degeneration of white matter, due to mutations in the genes for the subunits of eukaryotic initiation factor 2B, a heteropentameric guanine nucleotide exchange factor that regulates cell translation. Synonym(s): childhood ataxia with diffuse central nervous system hypomyelination leukoencephalopathy with vanishing white matter A leukodystrophy of childhood onset (OMIM:603896) characterised by progressive cerebellar ataxia, spasticity, variable optic atrophy and relatively preserved mental abilities. Leukodystrophy with vanishing white matter is usually slowly progressive, but may undergo rapid deterioration after fever or minor head trauma. Clinical variants include a severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba (Cree leukoencephalopathy), and a milder form affecting females who survive to adolescence and exhibit ovarian dysfunction (ovarioleukodystrophy). Molecular pathology Defects in EIF2B1, which encodes a subunit of eukaryotic translation initiation factor 2B (EIF2B), an essential regulator of protein synthesis, are a cause of leukodystrophy with vanishing white matter. FinancialSeeCLEAcronymsSeeVWM
随便看	had one's end away had one's eye had one's eyes glued to had one's feelers out had one's fill had one's fill of had one's fill of something had one's finger in the pie had one's finger in too many pies had one's fingers in the till had one's foot on someone's neck had one's hand in had one's hand in the cookie jar had one's head screwed on had one's head screwed on right had one's heart dead set against had one's heart set against had one's heart stand still had one's luck run out had one's moments had one's name and number on it had one's nose in a book had one's nose in a magazine had one's nose in the air had one's nose out of joint