Arg113His mutation of vanishing white matter is not present in multiple sclerosis.
Vanishing white matter (VWM) is a childhood leukoencephalopathy with central hypomyelination, white matter rarefaction, and cystic degeneration. Adult onset, variable phenotype, and high frequency characterize Arg113His mutation caused by G338A polymorphism associated with VWM. A patient with trauma-associated onset, and clinical features compatible with multiple sclerosis (MS), was homozygous for G338A mutation of eukaryotic translation initiation factor (eIF2B5). The authors checked a cohort of 101 MS patients, including 19 with head/neck trauma-associated onset, and failed to find the mutation, described above, in MS chromosomes. Our report does not exclude the presence in MS chromosomes of other mutations in the eIF2B gene family.
Lucas
M
M
Molecular Biology Service, Virgen Macarena University Hospital, Seville, Spain. lucas@us.es
Suarez
R
R
Marcos
A
A
Solano
F
F
Venegas
A
A
Garcia-Sanchez
M I
MI
Ortiz
L
L
Izquierdo
G
G
D000293:Adolescent; D019943:Amino Acid Substitution; D001120:Arginine; D001921:Brain / Q000473:pathology*; D005260:Female; D007839:Functional Laterality; D006639:Histidine; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
D006639:Histidine; D001120:Arginine