We report the clinical description of an Italian patient with c.638A>G mutation in exon 5 of EIF2B2 gene and a very slow progressive Vanishing White Matter disease phenotype. Infact, in relation to her causative mutation, our patient had an unusual early onset and long course. Furthermore, other than standard MRI examination and spectroscopy study, we report DWI and ADC maps and FA maps reconstruction from DTI in order to describe brain tissue degeneration in vanishing white matter disease. © 2012 Springer-Verlag.
CITATION STYLE
Sambati, L., Agati, R., Bacci, A., Bianchi, S., & Capellari, S. (2013). Vanishing white matter disease: An Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course. Neurological Sciences, 34(7), 1235–1238. https://doi.org/10.1007/s10072-012-1129-3
Mendeley helps you to discover research relevant for your work.