guanosine-triphosphate and Ataxia

guanosine-triphosphate has been researched along with Ataxia* in 1 studies

Other Studies

1 other study(ies) available for guanosine-triphosphate and Ataxia

Article	Year
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. Neurology, 2002, Dec-24, Volume: 59, Issue:12 Childhood ataxia with central hypomyelination (CACH)/vanishing white matter (VWM) leukoencephalopathy is related to mutations in all five genes of the eukaryotic translation initiation factor (eIF2B). In a fatal infantile leukoencephalopathy, which the authors previously classified as a severe variant of CACH/VWM, a new homozygous missense mutation in the EIF2B5 gene was found. Abnormal decrease in blood uric acid and increase of erythrocyte guanosine 5'-diphosphate sugars found in two siblings may contribute to the explanation of this particularly severe condition. Topics: Ataxia; Basal Ganglia; Erythrocytes; Eukaryotic Initiation Factor-2B; Fatal Outcome; Guanosine Triphosphate; Humans; Indians, North American; Infant; Leukoencephalopathy, Progressive Multifocal; Magnetic Resonance Imaging; Male; Mutation, Missense; Oligodendroglia; Pedigree; Polymorphism, Genetic; Thalamus	2002

Article

Year

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.

Neurology, 2002, Dec-24, Volume: 59, Issue:12

Childhood ataxia with central hypomyelination (CACH)/vanishing white matter (VWM) leukoencephalopathy is related to mutations in all five genes of the eukaryotic translation initiation factor (eIF2B). In a fatal infantile leukoencephalopathy, which the authors previously classified as a severe variant of CACH/VWM, a new homozygous missense mutation in the EIF2B5 gene was found. Abnormal decrease in blood uric acid and increase of erythrocyte guanosine 5'-diphosphate sugars found in two siblings may contribute to the explanation of this particularly severe condition.

Topics: Ataxia; Basal Ganglia; Erythrocytes; Eukaryotic Initiation Factor-2B; Fatal Outcome; Guanosine Triphosphate; Humans; Indians, North American; Infant; Leukoencephalopathy, Progressive Multifocal; Magnetic Resonance Imaging; Male; Mutation, Missense; Oligodendroglia; Pedigree; Polymorphism, Genetic; Thalamus

2002