Format

Send to

Choose Destination
See comment in PubMed Commons below
Neurol Sci. 2013 Jul;34(7):1235-8. doi: 10.1007/s10072-012-1129-3. Epub 2012 Jun 23.

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.

Abstract

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.

PMID:
22729508
DOI:
10.1007/s10072-012-1129-3
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center