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Arg113His mutation of vanishing white matter is not present in multiple sclerosis

Molecular Biology Service, Virgen Macarena University Hospital, Seville, Spain,lucas{at}us.es

R. Suarez

Molecular Biology Service, Virgen Macarena University Hospital, Seville, Spain

A. Marcos

Multiple Sclerosis Unit of the Virgen Macarena University Hospital, Seville, Spain

F. Solano

Molecular Biology Service, Virgen Macarena University Hospital, Seville, Spain

A. Venegas

Multiple Sclerosis Unit of the Virgen Macarena University Hospital, Seville, Spain

M.I. Garcia-Sanchez

Multiple Sclerosis Unit of the Virgen Macarena University Hospital, Seville, Spain

L. Ortiz

Molecular Biology Service, Virgen Macarena University Hospital, Seville, Spain

G. Izquierdo

Multiple Sclerosis Unit of the Virgen Macarena University Hospital, Seville, Spain

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. Multiple Sclerosis 2007; 13: 424-427. http://msj.sagepub.com

Key Words: Arg113His mutation • eIF2B5 • leukoencephalopathy • multiple sclerosis • vanishing white matter

This version was published on April 1, 2007

Multiple Sclerosis, Vol. 13, No. 3, 424-427 (2007)
DOI: 10.1177/1352458506070248


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